AiPD: Autoinhibited Protein Database

P36897

Gene name	TGFBR1 (ALK5, SKR4)
Protein name	TGF-beta receptor type-1
Names	TGFR-1, Activin A receptor type II-like protein kinase of 53kD, Activin receptor-like kinase 5, ALK-5, ALK5, Serine/threonine-protein kinase receptor R4, SKR4, TGF-beta type I receptor, Transforming growth factor-beta receptor type I, TGF-beta receptor type I, TbetaR-I
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7046
EC number	2.7.11.30: Protein-serine/threonine kinases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

128-226 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

128-226 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

350-377 (Activation loop from InterPro)

Target domain	205-495 (Protein kinase domain)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

39 structures for P36897

Entry ID	Method	Resolution	Chain	Position	Source
1B6C	X-ray	260 A	B/D/F/H	162-503	PDB
1IAS	X-ray	290 A	A/B/C/D/E	162-503	PDB
1PY5	X-ray	230 A	A	175-500	PDB
1RW8	X-ray	240 A	A	200-500	PDB
1VJY	X-ray	200 A	A	201-503	PDB
2L5S	NMR	-	A	31-115	PDB
2PJY	X-ray	300 A	C	33-111	PDB
2WOT	X-ray	185 A	A	200-503	PDB
2WOU	X-ray	230 A	A	200-503	PDB
2X7O	X-ray	370 A	A/B/C/D/E	162-503	PDB
3FAA	X-ray	335 A	A/B/C/D/E	162-503	PDB
3GXL	X-ray	180 A	A	201-503	PDB
3HMM	X-ray	170 A	A	201-503	PDB
3KCF	X-ray	280 A	A/B/C/D/E	162-503	PDB
3KFD	X-ray	300 A	I/J/K/L	31-115	PDB
3TZM	X-ray	170 A	A	200-503	PDB
4X0M	X-ray	168 A	A	200-503	PDB
4X2F	X-ray	149 A	A	200-503	PDB
4X2G	X-ray	151 A	A	200-503	PDB
4X2J	X-ray	169 A	A	200-503	PDB
4X2K	X-ray	169 A	A	200-503	PDB
4X2N	X-ray	180 A	A	200-503	PDB
5E8S	X-ray	145 A	A	200-503	PDB
5E8T	X-ray	170 A	A	200-503	PDB
5E8U	X-ray	203 A	A	200-503	PDB
5E8W	X-ray	186 A	A	200-503	PDB
5E8X	X-ray	145 A	A	200-503	PDB
5E8Z	X-ray	151 A	A	200-503	PDB
5E90	X-ray	205 A	A	200-503	PDB
5FRI	X-ray	200 A	A	200-498	PDB
5QIK	X-ray	158 A	A	200-503	PDB
5QIL	X-ray	198 A	A	200-503	PDB
5QIM	X-ray	175 A	A	200-503	PDB
5QTZ	X-ray	183 A	A	200-503	PDB
5QU0	X-ray	167 A	A	200-503	PDB
5USQ	X-ray	255 A	A	200-498	PDB
6B8Y	X-ray	165 A	A	200-503	PDB
6MAC	X-ray	234 A	K	33-112	PDB
AF-P36897-F1	Predicted				AlphaFoldDB

455 variants for P36897

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA374223476 RCV000761570 rs1564120661	3	A>V	Marfan syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA374223482 RCV001044288 RCV001811627 rs1331965992	4	A>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs863223802 RCV001235373 CA374223504	7	A>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs863223802 RCV000811870 CA321351 RCV000196930	7	A>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10587677 rs886038980 RCV001039839	11	R>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1021523079 CA196864761 RCV000545217 RCV001540217	16	V>M	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA374223760 RCV001305257 RCV001194076 rs1333080544	20	A>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs11466445 RCV001326875	22	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001170708 rs1260360529 CA374223784	22	A>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs11466445 RCV000588865 RCV002358649	22	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs11466445 RCV001719118 RCV001069917	23	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs11466445 RCV000654792 RCV002485481	23	A>missing	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000206714 rs11466445 RCV003148659 RCV000203000 RCV000152000 RCV000263723 RCV002277299 RCV000755402	24	A>missing	Loeys-Dietz syndrome Ehlers-Danlos syndrome Thoracic aortic aneurysm Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs11466445 RCV000465262 RCV001704558	24	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs886038783 RCV002310832	24	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001805861 RCV000794608 CA196864812 rs992252059	24	A>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs11466445 RCV000865938 RCV001705391	25	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000704697 RCV000590468 rs11466445	25	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs11466445 RCV000195794 RCV000526310 RCV001579589	26	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs11466445 RCV001722085 RCV000246233 RCV002277547 RCV000199722	26	A>missing	Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV003142128 RCV001203193 rs1826374374	30	G>R	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
CA374223881 rs1381354900 RCV000525047	30	G>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1319771049 CA374223898 RCV000822583	32	T>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001177769 rs1554698880	33	A>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
COSM1458891 CA374224884 rs1554698880 RCV002315945	33	A>V	Familial thoracic aortic aneurysm and aortic dissection large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
VAR_065826	41	C>Y	MSSE; hypomorphic variant [UniProt]	Yes	UniProt
RCV002477006 RCV000454530 RCV000022802 RCV000766900 CA008745 RCV000654793 VAR_065827 RCV001374784 rs387906696 COSM1755840	45	N>S	Multiple self-healing squamous epithelioma Variant assessed as Somatic; 0.0 impact. pancreas Familial thoracic aortic aneurysm and aortic dissection urinary_tract Loeys-Dietz syndrome 1 Isolated thoracic aortic aneurysm MSSE; hypomorphic variant [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV000803482 CA374225208 rs1588576221	50	T>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs587776865 CA008785 VAR_065828 RCV000777702 RCV000022803	52	G>R	Multiple self-healing squamous epithelioma Familial thoracic aortic aneurysm and aortic dissection MSSE; hypomorphic variant [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001178843 rs1827123254	53	L>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs200779997 RCV000685163 CA196882226	63	D>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001166107 RCV000320806 rs886042300 CA10604056 RCV002411148	64	K>R	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001191049 rs1827124531	65	V>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA041200 rs766157497 RCV000780773 RCV002500976 RCV000756777 RCV001179697 COSM1103188	67	H>Y	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection endometrium Loeys-Dietz syndrome 1 [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002277306 RCV000154851 rs111513627 RCV000788208 RCV000551891 CA008796	72	I>L	Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201910738 RCV000207996 CA041259 RCV000985274	74	E>D	Familial thoracic aortic aneurysm and aortic dissection Craniosynostosis syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000999188 rs998268148 RCV000654807 CA196882280	74	E>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1554698926 RCV002315262 CA374225763	77	L>*	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001302782 VAR_065829 CA041301 rs757374917	83	P>L	Familial thoracic aortic aneurysm and aortic dissection MSSE; hypomorphic variant [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001178976 rs1827129569	95	V>M	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA374226202 RCV002315944 rs1554698939	97	T>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA041405 RCV001570240 RCV002279479 RCV000660315 rs780295872	98	T>S	Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002276650 RCV001166108 CA374226240 rs1360080681	99	Y>C	Ehlers-Danlos syndrome Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000654800 CA041461 rs769320006	102	N>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1564149227 CA374226467 RCV000680611	110	E>K	Connective tissue disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1827133059 RCV001185635	114	T>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001191024 RCV001773443 rs1827133059	114	T>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1827266142 RCV001188497	116	K>E	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1827267269 RCV001060707	120	G>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000493898 rs878854713 CA10582696 RCV000226439	123	P>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA374227816 RCV002315261 rs1554699525	123	P>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001189735 CA041963 rs756586874	126	L>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001185383 rs1827269407	133	P>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs730880222 CA008549 RCV000157516	134	V>M	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1827269961 RCV001187260	135	C>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA042027 RCV002321793 rs745576967 RCV000762567	137	V>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000328066 VAR_054160 RCV000229273 RCV000384899 RCV000154441 RCV000766901 CA008552 rs148176750	139	I>V	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1057524105 CA16605791 RCV000419910 RCV001865390	140	S>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1029455360 RCV002315942 CA374227991	142	M>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001046399 rs1827272468	144	M>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV002515369 rs775267361 RCV000197880 CA042043	145	V>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA196885598 rs945370154 RCV000774495	150	N>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA063558 RCV002478902 RCV000816693 rs776680716 RCV001171875	151	R>C	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV000200131 RCV001580027 RCV000349783 RCV000251582 CA042108 RCV000292925 RCV002277548 rs56014374 VAR_041412	153	V>I	Loeys-Dietz syndrome Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1184553647 CA374228139 RCV000801102	156	H>Y	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1060502040 RCV000461373 CA16612807 COSM1755841 RCV002470860	157	R>*	Multiple self-healing squamous epithelioma Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. urinary_tract [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA042129 RCV001187586 rs147146713 RCV001806036	157	R>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs147146713 RCV001815506 CA374228146 RCV001179096	157	R>Q	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs767785290 RCV000334642 RCV000788783 RCV000296046 RCV000391342 CA042147	160	N>S	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1827276619 RCV001187461	163	D>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs886063222 RCV000405232 RCV000338312 RCV000299669 CA10630697	164	P>S	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000469878 CA16612909 rs1060502044	167	D>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM175302 RCV001865304 rs1057519144 CA16043783 RCV000415841	168	R>C	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection large_intestine [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV001873189 rs777965779 RCV000780771 CA042184	168	R>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA374228255 RCV001190294 rs777965779	168	R>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1827278155 RCV001181926	169	P>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001242395 rs1827278456	170	F>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs121918713 CA008534 RCV000013353	174	G>V	Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001593237 RCV001060276 rs745324433 CA042247	176	T>M	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002315943 CA374228507 rs1554699638	188	G>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA374229240 RCV000766263 RCV002473128 rs1564161224	192	G>D	Ehlers-Danlos syndrome, classic type [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002272171 CA322942 RCV000198438 rs863223807 RCV002515370	196	L>F	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10587679 rs886038998 RCV002310941	196	L>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA008828 RCV000038240 rs397517032 RCV001348922	199	R>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_022344 CA008835 rs121918712 RCV000013347	200	T>I	Loeys-Dietz syndrome 1 LDS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000798557 CA374229405 COSM285682 RCV001374785 rs1564161322 RCV001528128 RCV000786409	202	A>V	Familial thoracic aortic aneurysm and aortic dissection large_intestine Variant assessed as Somatic; impact. Loeys-Dietz syndrome 1 Isolated thoracic aortic aneurysm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA10587681 RCV001582900 RCV000246351 rs886039068	204	T>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs200018073 CA324028 RCV000696683 RCV000766034 RCV000199482 RCV000623797	205	I>V	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1827484742 RCV001184910	206	V>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1588585291 RCV001180260	208	Q>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1588585291 RCV000803531 CA374229462	208	Q>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002315260 rs1554700603	212	G>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs727503470 RCV000578271 CA374229530	214	G>S	Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA322797 RCV000198291 RCV001041114 rs863223810 COSM1458893	219	V>F	Familial thoracic aortic aneurysm and aortic dissection large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1564161544 RCV001220396 RCV001806057 CA374229645	225	R>W	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV001218450 rs1827486970	226	G>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA16612704 rs1060502042 RCV000471274 RCV000786408	227	E>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs863223829 RCV001380058 RCV000825630 RCV000197382	228	E>missing	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
VAR_029481	232	K>E	LDS1 [UniProt]	Yes	UniProt
RCV000473430 rs1060502046 CA16612911 RCV001174650	234	F>L	Familial aortopathy Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000559671 rs1554700632 CA374229742	235	S>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001341631 rs863223830	236	S>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA321749 RCV000507920 RCV002363012 RCV000197297 rs863223812	236	S>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs863223813 RCV002515371 RCV000198846 CA323375	237	R>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1827490566 RCV001064841	237	R>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1827490717 RCV001180958	238	E>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs775429965 CA042764 RCV001869205 RCV000788400	240	R>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000244262 RCV000617152 RCV000845292 rs111854391 COSM277669 RCV000013350 CA008855 VAR_029482 RCV003224094 RCV000442105 RCV000030540	241	S>L	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection large_intestine Variant assessed as Somatic; impact. Loeys-Dietz syndrome 1 LDS1 [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV000701356 CA374229810 rs1564161816	242	W>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000694802 CA374229853 rs1329974247	244	R>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000538139 rs1057524497 CA374229855	245	E>*	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554700650 RCV000624840 CA374229857	245	E>A	Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000984475 CA374229866 rs1588585506	245	E>D	Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000436157 rs1057524497 COSM1553856 CA16605589 RCV000804845	245	E>K	lung Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs886038919 RCV001042584 RCV002288945 RCV000582499 CA10587682	253	M>V	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000853281 COSM1103193 rs1588585570 CA374230223	255	R>C	endometrium Loeys-Dietz syndrome 1 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA374230236 rs1554700666 RCV000536616	256	H>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs397517033 RCV001226824	260	L>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs397517033 RCV000038241 RCV002514151 CA008863	260	L>Q	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554700672 RCV000551498 CA374230291	261	G>*	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1827496536 RCV001050179	263	I>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001322257 rs1827496704	265	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000197559 rs863223819 CA322019 RCV003147394	266	D>G	Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM3395476 rs1060502043 RCV000456585 CA16612966	266	D>N	pancreas Familial thoracic aortic aneurysm and aortic dissection [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_066720	266	D>Y	LDS1 [UniProt]	Yes	UniProt
CA008868 RCV000152003 rs727503471 RCV000654806	267	N>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000704015 rs1564162124 CA374230372	269	D>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA043182 rs201475375 RCV001860408	270	N>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs863223816 CA16612811 RCV000466576	274	T>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1827646767 RCV001280800	276	L>P	Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001176113 rs1827647231	277	W>*	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1827647083 RCV001336713	277	W>R	Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001227976 rs1827647395	278	L>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000654795 rs112300506 CA10587683	279	V>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001178836 rs1827647938	281	D>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA043241 rs755827803 RCV000197704 RCV000688891 RCV002503767	282	Y>H	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000788819 RCV002442609 rs1588590301 RCV001256790	283	H>missing	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000680124 CA374230578 COSM1458896 rs1064796037 RCV000540821	283	H>R	Familial thoracic aortic aneurysm and aortic dissection large_intestine Variant assessed as Somatic; impact. prostate Loeys-Dietz syndrome 1 [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1588590331 RCV001183537	285	H>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001182313 CA374230594 RCV000788801 rs1588590331	285	H>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs863223832 CA374230607 RCV000698286	287	S>Y	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000599086 rs1554701447 RCV001058970	290	D>*	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA196891567 RCV001188372 rs200560562	295	Y>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs757284158 CA043284 RCV002483508 RCV000555698	297	V>I	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA374230742 rs1564168346 RCV000694696	308	S>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs200518416 RCV002484139 RCV001210233 CA043369	309	T>M	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001184634 rs202010361	310	A>E	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA043393 rs202010361 RCV002491331 RCV000770354	310	A>V	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001837763 RCV000458811 RCV000519713 CA352067 COSM1103194 rs869025535	312	G>D	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV002255135 RCV000208245 RCV000199247 RCV001187849 CA043448 rs760079636	312	G>S	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA16612814 RCV000464356 rs1060502045	315	H>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA374230800 RCV000822014 CA043482 rs752190665	318	M>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA008882 RCV000119102 rs121918710 VAR_022345	318	M>R	Loeys-Dietz syndrome 1 LDS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001068851 rs1554701491	320	I>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA374230817 RCV002315258 rs1554701491	320	I>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000197792 CA322256 rs863223833 RCV001373794	322	G>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA324574 rs863223834 RCV000200025 RCV000459749	326	K>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001350602 rs1827738279	331	H>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA196892993 RCV002315257 rs113911127	337	K>E	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001179362 CA374231361 rs1162682079	341	V>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001180195 rs1827740020	344	N>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA374231398 rs1554701900 RCV001526112 RCV002223232	345	G>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA043804 RCV002483962 rs113786548 RCV001177119	347	C>S	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs886039015 RCV001059804 CA10587684	347	C>W	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001204337 rs1827740730	350	A>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
VAR_066721	351	D>G	LDS1 [UniProt]	Yes	UniProt
RCV000584165 CA374231493 rs1554701911	353	G>V	Loeys-Dietz syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554701914 CA374231501 RCV000623721	354	L>P	Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA043850 rs201050937 RCV001190415 RCV001566721 RCV002504207	364	T>S	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA374231743 RCV000654812 RCV000588447 rs1554701926	373	V>M	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001578258 RCV000538755 CA374231760 rs1554701930	374	G>E	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1827743139 RCV001266451 RCV002436985 VAR_066722	375	T>R	Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases LDS1 [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
CA10587685 RCV001764237 rs886039004 RCV001046474	379	M>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA374232585 RCV000553671 rs1554702207	379	M>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA044169 rs746047431 RCV002321044	380	A>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA044182 RCV000780772 rs760555508 RCV000654791	381	P>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001857726 RCV000196433 CA320850 rs863223824	382	E>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1827800557 RCV001185196	386	D>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1564174278 RCV000770357 CA374232859	394	E>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs907536931 RCV001187533 CA196894159	397	K>R	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs1827802075 RCV001191478	399	A>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs121918711 CA008717 RCV000013346 VAR_022346	400	D>G	Loeys-Dietz syndrome 1 LDS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA044286 RCV000774482 RCV001579350 rs762486367	402	Y>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA374233005 RCV001773432 rs1241201708 RCV001184133	404	M>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000660316 CA044656 rs200062984	406	L>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA374233045 rs146549837 CA196894196 RCV002315259	407	V>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ESP TOPMed ClinVar dbSNP
RCV001759722 rs1827803661 RCV001035481	410	E>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001314592 CA324752 rs1554702248	411	I>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA196894240 rs200595614 RCV001189260 RCV002259383 COSM1458899	413	R>*	pancreas Familial thoracic aortic aneurysm and aortic dissection large_intestine Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000022805 RCV000474057 rs387906697 CA008738	414	R>*	Multiple self-healing squamous epithelioma Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000660317 CA040349 rs756570466	426	L>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000802300 rs201745016 RCV000762568 CA040387 RCV002470973	429	Y>H	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001525148 RCV002223832 CA10587686 rs886039078	434	S>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000527549 rs886039078 CA374233333	434	S>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002310869 rs886038954	435	D>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA374233335 rs1554702463 RCV000660318	435	D>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001061635 rs1131691342 CA374233346 RCV000492978	436	P>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1131691342 RCV001300417	436	P>Q	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1554702474 CA374233378 RCV000770358	441	M>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554702474 CA374233380 RCV000654798	441	M>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001183606 rs1827843082	442	R>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001209677 rs1827843537	448	Q>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1564176059 RCV000845496 CA374233437 RCV000702735	449	K>R	Aortic aneurysm, familial thoracic 6 Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1827844675 RCV002223981 RCV001062908	452	P>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1827845172 RCV001191456	454	I>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA374233608 RCV000542426 rs1554702716	472	R>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001067795 rs1827899415 RCV002290582	474	C>Y	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000490239 RCV001188451 rs767589799 CA040887	475	W>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001188753 rs1827900086	477	A>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV002478418 RCV000229867 CA008529 RCV000726645 RCV002277294 RCV000148890 RCV000199866 rs141259922	478	N>S	Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA040936 RCV002509624 rs377194685 RCV001190544	479	G>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA374233660 RCV000706529 rs925777307	480	A>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001170915 rs1827901042	481	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA008762 rs730880223 RCV002516367 RCV000157517	482	R>G	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA374233682 RCV000807802 rs1588598651 RCV001336712	482	R>S	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000553329 rs1554702734 CA374233687	483	L>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1827902114 RCV001065118	485	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA374233713 rs886039176 RCV000766264	486	L>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs886039176 RCV002311195 CA10587688	486	L>W	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000819567 CA374233718 rs111426349	487	R>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000013348 rs113605875 CA008778 VAR_022347	487	R>P	Loeys-Dietz syndrome 1 LDS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_029484 RCV000196834 RCV000013351 RCV001194075 RCV000211857 CA008776 rs113605875 COSM1635939 RCV000463090	487	R>Q	Loeys-Dietz syndrome liver Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. Loeys-Dietz syndrome 1 LDS1 [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000763611 RCV000251089 RCV000200764 COSM199708 VAR_029485 rs111426349 RCV000211856 CA008768 RCV000013352	487	R>W	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection large_intestine Variant assessed as Somatic; impact. Loeys-Dietz syndrome 1 LDS1 [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
CA374233733 RCV000654803 rs1554702748	489	K>E	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002396828 rs863223828	489	K>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA374223465 rs1448342568	2	E>*		No	ClinGen TOPMed
CA374223467 rs1341843102	2	E>G		No	ClinGen TOPMed
rs1429700300 CA374223479	4	A>S		No	ClinGen gnomAD
CA323707 rs863223803 RCV000199173	8	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs1060499907 RCV000455214	9	R>missing		No	ClinVar dbSNP
CA16605929 RCV000418390 rs886038980	11	R>Q		No	ClinGen ClinVar TOPMed dbSNP
RCV000418150 rs1057524279 CA16605586	12	L>P		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs863223804 RCV000195959	17	L>P		No	ClinVar dbSNP
rs1243596219 CA374223600	18	A>T		No	ClinGen TOPMed
CA374223604 rs1340108372	18	A>V		No	ClinGen gnomAD
rs1217107691 CA374223613	19	A>V		No	ClinGen TOPMed gnomAD
RCV000513181 rs1554695407 RCV000618570 CA374223772	21	A>V		No	ClinGen ClinVar Ensembl dbSNP
CA374223796 rs1308498667	23	A>V		No	ClinGen gnomAD
VAR_022342	24	A>del	allele TGFBR1*6A; could be a tumor susceptibility allele [UniProt]	No	UniProt
CA374223820 rs1416041663	25	A>V		No	ClinGen TOPMed
CA374223829 rs1295281826	26	A>T		No	ClinGen gnomAD
VAR_022343	26	A>AA	allele TGFBR1*10A [UniProt]	No	UniProt
rs1291691916 CA374223884	31	A>T		No	ClinGen TOPMed gnomAD
CA374223907 rs1489758184	33	A>T		No	ClinGen gnomAD
CA040376 rs772361141	35	Q>R		No	ClinGen ExAC gnomAD
rs1219446021 CA374224926	36	C>S		No	ClinGen gnomAD
rs750150798 CA196882126	38	C>Y		No	ClinGen Ensembl
CA196882135 rs1054908672	40	L>F		No	ClinGen Ensembl
rs543397817 CA196882152	41	C>S		No	ClinGen Ensembl
rs1345066131 CA374225050	42	T>I		No	ClinGen TOPMed gnomAD
rs1345066131 CA374225039	42	T>K		No	ClinGen TOPMed gnomAD
rs1476572534 CA374225073	44	D>N		No	ClinGen gnomAD
TCGA novel	46	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	51	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374225326 rs1588576233 RCV000999187	55	F>L		No	ClinGen ClinVar Ensembl dbSNP
CA374225382 rs1588576248	58	V>L		No	ClinGen Ensembl
CA374225395 rs1405050563	59	T>A		No	ClinGen gnomAD
CA374225416 rs1171355842	60	E>D		No	ClinGen TOPMed
CA041160 rs765004526	63	D>G		No	ClinGen ExAC gnomAD
rs904783520 CA196882260	66	I>T		No	ClinGen Ensembl
rs1270609574 CA374225523	66	I>V		No	ClinGen gnomAD
rs727503469 CA008791 RCV000152001	68	N>S		No	ClinGen ClinVar Ensembl dbSNP
rs753933625 CA041275	77	L>V		No	ClinGen ExAC gnomAD
rs1368326650 CA374225838 COSM3835284	80	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA041358 rs746141820	85	V>L		No	ClinGen ExAC gnomAD
CA374226110 rs1382306770	92	T>P		No	ClinGen gnomAD
rs1318691450 CA374226159	94	S>F		No	ClinGen gnomAD
TCGA novel	99	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259101867 CA374226294	101	C>*		No	ClinGen TOPMed gnomAD
CA041469 rs200860457	102	N>S		No	ClinGen ExAC gnomAD
TCGA novel	106	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441006367 CA374226451	109	I>V		No	ClinGen gnomAD
CA374226487 rs1244225435	111	L>V		No	ClinGen gnomAD
CA041538 rs199904970	112	P>A		No	ClinGen ExAC gnomAD
rs762573778 CA041557	113	T>A		No	ClinGen ExAC gnomAD
CA374227727 rs1202901102	116	K>R		No	ClinGen gnomAD
CA374227748 rs1253528986	117	S>L		No	ClinGen gnomAD
CA041911 rs370568025	118	S>L		No	ClinGen ESP ExAC gnomAD
rs1306997419 CA374227767	119	P>S		No	ClinGen TOPMed gnomAD
rs781729436 CA041941	120	G>S		No	ClinGen ExAC gnomAD
rs373391549 CA041956	124	V>M		No	ClinGen ESP ExAC gnomAD
CA041985 rs778289813	128	A>P		No	ClinGen ExAC gnomAD
rs1168073281 COSM1458892 CA374227875	130	I>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs770511883 CA042006	131	A>G		No	ClinGen ExAC gnomAD
rs1292981675 CA063510	133	P>S		No	ClinGen gnomAD
rs1363842132 CA374227913	134	V>A		No	ClinGen gnomAD
CA374227919 rs1466173693	135	C>Y		No	ClinGen TOPMed
CA196885536 rs773845018	136	F>L		No	ClinGen ExAC gnomAD
rs749651186 CA196885557	141	L>F		No	ClinGen Ensembl
CA374227998 rs1331273615	142	M>I		No	ClinGen gnomAD
CA196885561 rs1029455360	142	M>L		No	ClinGen TOPMed
CA322389 RCV000197925 rs863223831	143	L>*		No	ClinGen ClinVar Ensembl dbSNP
CA196885591 rs75857126	147	I>T		No	ClinGen gnomAD
CA042056 rs760422619 COSM1635938	147	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs768500160 CA042066	149	H>R		No	ClinGen ExAC gnomAD
rs539413187 CA042092	151	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs539413187 CA374228095	151	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751679796 CA374228123	155	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1485371810 CA374228129	155	H>R		No	ClinGen gnomAD
CA042118 rs751679796	155	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA196885649 rs113982335	160	N>H		No	ClinGen Ensembl
rs1362410531 CA374228218	164	P>R		No	ClinGen TOPMed
rs756547201 CA042170	167	D>H		No	ClinGen ExAC gnomAD
CA196885707 rs756643977	169	P>R		No	ClinGen Ensembl
rs1564154289 CA374228278	171	I>V		No	ClinGen Ensembl
TCGA novel	173	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA196885718 rs201137894	175	T>S		No	ClinGen TOPMed
rs779641991 CA063622	178	K>E		No	ClinGen ExAC gnomAD
rs1170480760 CA374228429	183	D>G		No	ClinGen TOPMed
rs1452337021 CA374228421	183	D>N		No	ClinGen gnomAD
CA042300 rs144313652	186	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA042312 rs144313652	186	T>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA374228495 rs1291952748	187	S>*		No	ClinGen gnomAD
rs769785561 CA042357	190	G>R		No	ClinGen ExAC gnomAD
CA042364 rs774583379	191	S>L		No	ClinGen ExAC gnomAD
rs867371544 CA196885842	192	G>S		No	ClinGen Ensembl
CA374229270 COSM1103192 rs1403864711	194	P>S	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs781042616 CA042631 COSM3413199	201	I>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	203	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA325251 rs1554700593	205	I>T		No	ClinGen Ensembl
CA374229460 rs1398627338	208	Q>*		No	ClinGen TOPMed
rs727503470 RCV000152002 CA008841	214	G>C		No	ClinGen ClinVar Ensembl dbSNP
RCV000196750 rs863223809 CA321169	216	F>L		No	ClinGen ClinVar Ensembl dbSNP
CA196889015 rs1013629735	220	W>C		No	ClinGen TOPMed
rs1328696339 CA374229609	222	G>R		No	ClinGen gnomAD
rs201021249 CA042712	224	W>*		No	ClinGen 1000Genomes ExAC gnomAD
RCV001268148 rs1827486281	224	W>L		No	ClinVar dbSNP
CA374229644 rs1564161544	225	R>G		No	ClinGen Ensembl
CA042734 rs772339721	227	E>G		No	ClinGen ExAC gnomAD
CA16618918 rs772339721 RCV000483348	227	E>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1588585372 CA374229691	229	V>G		No	ClinGen Ensembl
rs1588585386 CA374229706	232	K>*		No	ClinGen Ensembl
CA325117 RCV000200533 rs863223811	232	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA374229732 rs202156059	234	F>L		No	ClinGen gnomAD
rs1554700634 RCV000497624 CA374229743	236	S>A		No	ClinGen ClinVar Ensembl dbSNP
rs1477766571 CA374229787	240	R>H		No	ClinGen TOPMed
rs111854391 CA374229796	241	S>*		No	ClinGen gnomAD
rs863223814 RCV000200391 CA324960	242	W>R		No	ClinGen ClinVar Ensembl dbSNP
CA374229852 rs1329974247	244	R>H		No	ClinGen gnomAD
rs1588585511 CA374229877	246	A>G		No	ClinGen Ensembl
CA196889089 rs981029641	248	I>N		No	ClinGen Ensembl
rs1197470484 CA374230190	251	T>I		No	ClinGen gnomAD
CA321603 RCV000197160 rs863223815	253	M>T		No	ClinGen ClinVar Ensembl dbSNP
rs1554700665 RCV000627481	256	H>missing		No	ClinVar dbSNP
rs1412169459 CA374230281	260	L>M		No	ClinGen gnomAD
rs1370696796 CA374230331	265	A>S		No	ClinGen gnomAD
VAR_029483	267	N>H	a patient with Marfan syndrome [UniProt]	No	UniProt
rs863223816 RCV000199389 CA323920	274	T>A		No	ClinGen ClinVar Ensembl dbSNP
CA319831 RCV000195485 rs863223817	275	Q>R		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	280	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000485221 rs1064796037 CA16618919	283	H>P		No	ClinGen ClinVar Ensembl dbSNP
rs1259930180 CA374230592	285	H>Y		No	ClinGen gnomAD
RCV000195572 CA319926 rs863223832	287	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs201605956 CA196891545	288	L>F		No	ClinGen Ensembl
CA196891562 VAR_041413 rs35974499	291	Y>C		No	ClinGen UniProt Ensembl dbSNP
CA043255 rs191136014	291	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs199759998 CA196891564	293	N>S		No	ClinGen Ensembl
CA374230665 rs1443375770	296	T>A		No	ClinGen gnomAD
rs764452904 CA043294	298	T>A		No	ClinGen ExAC gnomAD
rs199822546 CA196891585	299	V>M		No	ClinGen Ensembl
TCGA novel	306	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA043319 rs768667498	306	A>P		No	ClinGen ExAC gnomAD
CA043339 rs768667498	306	A>S		No	ClinGen ExAC gnomAD
rs869025535 RCV001812429	312	G>V		No	ClinVar dbSNP
rs1209722877 CA374230772	314	A>S		No	ClinGen gnomAD
CA374230782 rs1060502045	315	H>L		No	ClinGen gnomAD
CA043498 rs760419678	320	I>L		No	ClinGen ExAC gnomAD
CA324340 RCV000199785 rs863223820	326	K>N		No	ClinGen ClinVar Ensembl dbSNP
RCV000154542 rs727504383	332	R>missing		No	ClinVar dbSNP
CA320985 rs863223821 RCV000196560	338	N>T		No	ClinGen ClinVar Ensembl dbSNP
CA374231342 rs1479309854	339	I>M		No	ClinGen gnomAD
CA374231371 rs1178346731	342	K>R		No	ClinGen gnomAD
rs113786548 RCV001171876	347	C>F		No	ClinVar dbSNP
CA196893001 rs113786548	347	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA322591 RCV000198106 rs863223822	351	D>A		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	351	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000455855 rs1060499908	354	L>missing		No	ClinVar dbSNP
rs779100123 CA196893018	357	R>G		No	ClinGen Ensembl
rs1564171713 CA374231564	361	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1588593222 CA374231618	365	I>T		No	ClinGen Ensembl
rs863223823 RCV000199651 CA324194	365	I>V		No	ClinGen ClinVar Ensembl dbSNP
rs1564171766 CA374231660	367	I>T		No	ClinGen Ensembl
rs368402450 CA319769 RCV000195433	370	N>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	370	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	370	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	375	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	377	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746666082 CA374232606	380	A>P		No	ClinGen gnomAD
rs746666082 CA196894127	380	A>S		No	ClinGen gnomAD
CA374232705 rs1452014590	385	D>N		No	ClinGen gnomAD
TCGA novel	387	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs863223825 CA323179	389	N>S		No	ClinGen gnomAD
rs199574997 CA044231	390	M>T		No	ClinGen ExAC TOPMed gnomAD
CA374232812 rs1332528951	391	K>R		No	ClinGen gnomAD
CA044241 rs747644508	396	F>V		No	ClinGen ExAC gnomAD
CA374232932 rs1327426815	398	R>C		No	ClinGen Ensembl
rs200657153 CA044253	398	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA374232942 rs1290088574	399	A>S		No	ClinGen gnomAD
rs1316021354 CA374232966	401	I>N		No	ClinGen gnomAD
rs557200755 CA044303	403	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA044324 rs557200755	403	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143435050 CA044334	404	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	409	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200986584 CA039998	411	I>T		No	ClinGen ExAC gnomAD
rs1055315456 CA196894221	412	A>G		No	ClinGen gnomAD
rs1269843401 CA374233125	412	A>S		No	ClinGen Ensembl
CA374233137 rs1389908628	413	R>Q		No	ClinGen TOPMed gnomAD
CA374233145 rs1469620887	414	R>Q		No	ClinGen gnomAD
COSM607136 CA374233177 rs1256701693	416	S>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA040011 rs764050602	417	I>V		No	ClinGen ExAC gnomAD
CA320733 rs863223827 RCV000196313	419	G>R		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	421	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA040325 rs781386406	421	H>Q		No	ClinGen ExAC gnomAD
CA196894894 rs1036114119	422	E>Q		No	ClinGen Ensembl
TCGA novel	435	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322105 RCV000197644 rs863223835	436	P>A		No	ClinGen ClinVar Ensembl dbSNP
rs778579239 CA040414	442	R>G		No	ClinGen ExAC gnomAD
rs745499424 CA040429	443	K>E		No	ClinGen ExAC gnomAD
rs1554702481 CA658822760	446	C>*		No	ClinGen Ensembl
rs1554702481 RCV000658471	446	C>*		No	ClinVar dbSNP
TCGA novel	447	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775143255 CA374233452	451	R>S		No	ClinGen ExAC TOPMed gnomAD
rs760666606 CA040479	453	N>T		No	ClinGen ExAC gnomAD
TCGA novel	454	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296876126 CA374233471	454	I>T		No	ClinGen TOPMed
rs1002733697 CA196894953	455	P>Q		No	ClinGen Ensembl
CA040492 rs768418563	460	S>G		No	ClinGen ExAC gnomAD
CA374233521 rs1229985147	461	C>Y		No	ClinGen TOPMed
TCGA novel	463	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748073284 CA040810	463	A>D		No	ClinGen ExAC gnomAD
CA040795 rs776749573	463	A>S		No	ClinGen ExAC gnomAD
CA374233555 rs1588598532	464	L>F		No	ClinGen Ensembl
rs556555554 CA040828	465	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs556555554 CA374233560	465	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs199926741 CA196895754	467	M>V		No	ClinGen Ensembl
rs1275304799 CA374233577	468	A>T		No	ClinGen TOPMed
CA040846 rs774565396	470	I>T		No	ClinGen ExAC gnomAD
TCGA novel	472	R>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759805984 CA323032 RCV000198521	474	C>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA040870 rs759805984	474	C>S		No	ClinGen ExAC gnomAD
rs1443434893 CA374233631	475	W>S		No	ClinGen TOPMed gnomAD
CA040917 rs141259922	478	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA196895776 rs925777307	480	A>T		No	ClinGen Ensembl
TCGA novel	485	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA16605939 RCV000417662 rs113605875	487	R>L		No	ClinGen ClinVar Ensembl dbSNP
CA323592 rs1554702751	489	K>T		No	ClinGen Ensembl
rs1564178651 CA374233803	495	L>F		No	ClinGen Ensembl
TCGA novel	495	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374233810 rs1268821663	495	L>R		No	ClinGen gnomAD
RCV000200620 CA041016 rs764733540	496	S>N		No	ClinGen ClinVar ExAC TOPMed dbSNP
rs1405292811 CA374233812	496	S>R		No	ClinGen gnomAD
rs1394341348 CA374233822	496	S>R		No	ClinGen TOPMed gnomAD
CA041039 rs749879202	497	Q>E		No	ClinGen ExAC gnomAD
CA196895813 rs988760662	498	Q>R		No	ClinGen Ensembl
CA374233877 rs1238675507	500	G>A		No	ClinGen gnomAD

2 associated diseases with P36897

[MIM: 609192]: Loeys-Dietz syndrome 1 (LDS1)

An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. {ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16596670, ECO:0000269|PubMed:16791849, ECO:0000269|PubMed:16928994, ECO:0000269|PubMed:19883511, ECO:0000269|PubMed:22113417}. Note=The disease is caused by variants affecting the gene represented in this entry. TGFBR1 mutation Gln-487 has been reported to be associated with thoracic aortic aneurysms and dissection (TAAD) (PubMed:16791849). This phenotype, also known as thoracic aortic aneurysms type 5 (AAT5), is distinguised from LDS1 by having aneurysms restricted to thoracic aorta. It is unclear, however, if this condition is fulfilled in individuals bearing Gln-487 mutation, that is why they are considered as LDS1 by the OMIM resource. {ECO:0000269|PubMed:16791849}.

[MIM: 132800]: Multiple self-healing squamous epithelioma (MSSE)

A disorder characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars. {ECO:0000269|PubMed:21358634}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. {ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16596670, ECO:0000269|PubMed:16791849, ECO:0000269|PubMed:16928994, ECO:0000269|PubMed:19883511, ECO:0000269|PubMed:22113417}. Note=The disease is caused by variants affecting the gene represented in this entry. TGFBR1 mutation Gln-487 has been reported to be associated with thoracic aortic aneurysms and dissection (TAAD) (PubMed:16791849). This phenotype, also known as thoracic aortic aneurysms type 5 (AAT5), is distinguised from LDS1 by having aneurysms restricted to thoracic aorta. It is unclear, however, if this condition is fulfilled in individuals bearing Gln-487 mutation, that is why they are considered as LDS1 by the OMIM resource. {ECO:0000269|PubMed:16791849}.
A disorder characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars. {ECO:0000269|PubMed:21358634}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for P36897

Type	Name	Position	InterPro Accession
domain	Activin types I and II receptor domain	34 - 109	IPR000472
domain	Protein kinase domain	205 - 495	IPR000719
domain	GS domain	175 - 205	IPR003605
active_site	Serine/threonine-protein kinase, active site	329 - 341	IPR008271
binding_site	Protein kinase, ATP binding site	211 - 232	IPR017441

Functions

		Description
EC Number	2.7.11.30	Protein-serine/threonine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Cell junction, tight junction Cell surface Membrane raft
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
activin receptor complex	A protein complex that acts as an activin receptor. Heterodimeric activin receptors, comprising one Type I activin receptor and one Type II receptor polypeptide, and heterotrimeric receptors have been observed.
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
cell surface	The external part of the cell wall and/or plasma membrane.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
transforming growth factor beta ligand-receptor complex	A protein complex that is formed by the association of a TGF-beta dimeric ligand with 2 molecules of each receptor molecule, TGF-beta type I receptor and TGF-beta type II receptor. The receptor molecules may form homo- or heterodimers but only once bound by the ligand.

12 GO annotations of molecular function

Name	Definition
activin binding	Binding to activin, a dimer of inhibin-beta subunits.
activin receptor activity, type I	Combining with activin-bound type II activin receptor to initiate a change in cell activity; upon binding, acts as a downstream transducer of activin signals.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
I-SMAD binding	Binding to an inhibitory SMAD signaling protein.
metal ion binding	Binding to a metal ion.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
SMAD binding	Binding to a SMAD signaling protein.
transforming growth factor beta binding	Binding to TGF-beta, transforming growth factor beta, a multifunctional peptide that controls proliferation, differentiation and other functions in many cell types.
transforming growth factor beta receptor activity	Combining with a transforming growth factor beta (TGFbeta) and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
transforming growth factor beta receptor activity, type I	Combining with a complex of transforming growth factor beta and a type II TGF-beta receptor to initiate a change in cell activity; upon binding, acts as a downstream transducer of TGF-beta signals.
type II transforming growth factor beta receptor binding	Binding to a type II transforming growth factor beta receptor.

74 GO annotations of biological process

Name	Definition
activin receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an activin receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
angiogenesis involved in coronary vascular morphogenesis	Blood vessel formation in the heart when new vessels emerge from the proliferation of pre-existing blood vessels.
anterior/posterior pattern specification	The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
artery morphogenesis	The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs.
blastocyst development	The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm.
cardiac epithelial to mesenchymal transition	A transition where a cardiac epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
cell motility	Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another.
cellular response to growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.
cellular response to transforming growth factor beta stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
collagen fibril organization	Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix.
coronary artery morphogenesis	The process in which the anatomical structures of coronary arteries are generated and organized. Coronary arteries are blood vessels that transport blood to the heart muscle.
embryonic cranial skeleton morphogenesis	The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase.
endothelial cell activation	The change in morphology and behavior of an endothelial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.
endothelial cell migration	The orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
endothelial cell proliferation	The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium.
epicardium morphogenesis	The developmental process by which an epicardium is generated and organized.
epithelial to mesenchymal transition	A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
extracellular structure organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite.
filopodium assembly	The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
germ cell migration	The orderly movement of a cell specialized to produce haploid gametes through the embryo from its site of production to the place where the gonads will form.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
kidney development	The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
lens development in camera-type eye	The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.
male gonad development	The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure.
mesenchymal cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types.
negative regulation of chondrocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of chondrocyte differentiation.
negative regulation of endothelial cell proliferation	Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation.
negative regulation of extrinsic apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neuron fate commitment	The process in which the developmental fate of a cell becomes restricted such that it will develop into a neuron.
parathyroid gland development	The process whose specific outcome is the progression of the parathyroid gland over time, from its formation to the mature structure. The parathyroid gland is an organ specialised for secretion of parathyroid hormone.
pathway-restricted SMAD protein phosphorylation	The process of introducing a phosphate group on to a pathway restricted SMAD protein. A pathway restricted SMAD protein is an effector protein that acts directly downstream of the transforming growth factor family receptor.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
peptidyl-threonine phosphorylation	The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
pharyngeal system development	The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear.
positive regulation of apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of epithelial to mesenchymal transition	Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	Any process that activates or increases the frequency, rate or extent of epithelial to mesenchymal transition involved in endocardial cushion formation.
positive regulation of filopodium assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of pathway-restricted SMAD protein phosphorylation	Any process that increases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
positive regulation of protein kinase B signaling	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
positive regulation of SMAD protein signal transduction	Any process that increases the rate, frequency or extent of SMAD protein signal transduction. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
positive regulation of stress fiber assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
positive regulation of tight junction disassembly	Any process that activates or increases the frequency, rate or extent of tight junction disassembly.
post-embryonic development	The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of cardiac muscle cell proliferation	Any process that modulates the frequency, rate or extent of cardiac muscle cell proliferation.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of epithelial to mesenchymal transition	Any process that modulates the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of protein binding	Any process that modulates the frequency, rate or extent of protein binding.
regulation of protein ubiquitination	Any process that modulates the frequency, rate or extent of the addition of ubiquitin groups to a protein.
response to cholesterol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus.
roof of mouth development	The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
skeletal system morphogenesis	The process in which the anatomical structures of the skeleton are generated and organized.
thymus development	The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components.
transforming growth factor beta receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
ventricular compact myocardium morphogenesis	The process in which the anatomical structures of the compact cardiac ventricle muscle are generated and organized.
ventricular septum morphogenesis	The developmental process in which a ventricular septum is generated and organized. A ventricular septum is an anatomical structure that separates the lower chambers (ventricles) of the heart from one another.
ventricular trabecula myocardium morphogenesis	The process in which the anatomical structures of the trabecular cardiac ventricle muscle are generated and organized.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P37173	TGFBR2	TGF-beta receptor type-2	Homo sapiens (Human)	PR
Q13705	ACVR2B	Activin receptor type-2B	Homo sapiens (Human)	PR
Q8NER5	ACVR1C	Activin receptor type-1C	Homo sapiens (Human)	PR
Q61288	Acvrl1	Serine/threonine-protein kinase receptor R3	Mus musculus (Mouse)	PR
Q8K348	Acvr1c	Activin receptor type-1C	Mus musculus (Mouse)	PR
Q64729	Tgfbr1	TGF-beta receptor type-1	Mus musculus (Mouse)	PR
Q5CD18	TGFBR1	TGF-beta receptor type-1	Sus scrofa (Pig)	PR
P80201	Acvr1	Activin receptor type-1	Rattus norvegicus (Rat)	PR
P70539	Acvr1c	Activin receptor type-1C	Rattus norvegicus (Rat)	PR
P20792	daf-1	Cell surface receptor daf-1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MEAAVAAPRP	RLLLLVLAAA	AAAAAALLPG	ATALQCFCHL	CTKDNFTCVT	DGLCFVSVTE
70	80	90	100	110	120
TTDKVIHNSM	CIAEIDLIPR	DRPFVCAPSS	KTGSVTTTYC	CNQDHCNKIE	LPTTVKSSPG
130	140	150	160	170	180
LGPVELAAVI	AGPVCFVCIS	LMLMVYICHN	RTVIHHRVPN	EEDPSLDRPF	ISEGTTLKDL
190	200	210	220	230	240
IYDMTTSGSG	SGLPLLVQRT	IARTIVLQES	IGKGRFGEVW	RGKWRGEEVA	VKIFSSREER
250	260	270	280	290	300
SWFREAEIYQ	TVMLRHENIL	GFIAADNKDN	GTWTQLWLVS	DYHEHGSLFD	YLNRYTVTVE
310	320	330	340	350	360
GMIKLALSTA	SGLAHLHMEI	VGTQGKPAIA	HRDLKSKNIL	VKKNGTCCIA	DLGLAVRHDS
370	380	390	400	410	420
ATDTIDIAPN	HRVGTKRYMA	PEVLDDSINM	KHFESFKRAD	IYAMGLVFWE	IARRCSIGGI
430	440	450	460	470	480
HEDYQLPYYD	LVPSDPSVEE	MRKVVCEQKL	RPNIPNRWQS	CEALRVMAKI	MRECWYANGA
490	500
ARLTALRIKK	TLSQLSQQEG	IKM