AiPD: Autoinhibited Protein Database

P24557

Gene name	TBXAS1
Protein name	Thromboxane-A synthase
Names	TXA synthase, TXS, Cytochrome P450 5A1, Hydroperoxy icosatetraenoate dehydratase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6916
EC number	4.2.1.152: Hydro-lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

271-352 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

271-352 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for P24557

Entry ID	Method	Resolution	Chain	Position	Source
AF-P24557-F1	Predicted				AlphaFoldDB

513 variants for P24557

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001332733 rs775012519	65	E>*	Ghosal hematodiaphyseal dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs4529 RCV000987981 VAR_010921 RCV002062030 RCV000593995 VAR_044387 CA4511878 VAR_058466	70	L>V	allele CYP5A1*5; KM value about 1.5 higher for PEG2; Vmax/KM approximately 27% of that of the wild-type Ghosal hematodiaphyseal dysplasia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA121728 rs140005285 RCV000178142 VAR_044386 RCV000012662	82	L>P	Ghosal hematodiaphyseal syndrome GHDD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs193110720 RCV001335602 CA4511555 RCV001039643	84	R>L	Thromboxane synthetase deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000768381 rs760698812	194	A>missing	Ghosal hematodiaphyseal dysplasia [ClinVar]	Yes	ClinVar dbSNP
CA4511802 RCV001270143 RCV000497429 rs376564758	264	A>S	Ghosal hematodiaphyseal dysplasia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4511840 RCV000953575 RCV002479100 rs13306052	294	V>M	Ghosal hematodiaphyseal dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199422117 RCV000012664 RCV001571663 RCV001283757 VAR_044388 CA121739	412	R>Q	Ghosal hematodiaphyseal dysplasia Ghosal hematodiaphyseal syndrome GHDD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD
CA4512039 rs149988492 RCV002249469 RCV000768333 RCV001855972	473	G>W	Ghosal hematodiaphyseal dysplasia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs794727053 RCV001542423 RCV000174274	474	A>missing	Ghosal hematodiaphyseal dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000012663 CA121734 rs199422116 VAR_044389	481	G>W	Ghosal hematodiaphyseal syndrome GHDD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000012661 VAR_044390 rs199422114 CA121723	487	L>P	Ghosal hematodiaphyseal syndrome GHDD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002521911 RCV000359646 CA4512067 RCV001270607 rs200663004	507	E>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA369570974 rs1159506045	3	A>D		No	ClinGen gnomAD
CA369571104 rs758831195	11	V>L		No	ClinGen ExAC TOPMed gnomAD
rs758831195 CA4511439	11	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1345033043 CA369571138	13	G>S		No	ClinGen gnomAD
CA369571161 rs1229224144	14	P>L		No	ClinGen gnomAD
rs761605340 CA4511441	16	V>A		No	ClinGen ExAC gnomAD
rs61733586 CA4511442	17	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4511444 rs755828182	19	A>V		No	ClinGen ExAC gnomAD
CA369571241 rs1585567465	20	L>V		No	ClinGen Ensembl
CA4511446 rs77579057	23	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs77579057 CA369571293	23	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4511447 rs755342498	24	L>F		No	ClinGen ExAC gnomAD
CA4511448 rs575146790	25	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs758813530 CA4511450	26	A>T		No	ClinGen ExAC gnomAD
CA4511451 rs777948651	26	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747082046 CA4511452	27	L>F		No	ClinGen ExAC gnomAD
CA167943353 rs1021202460	30	W>*		No	ClinGen gnomAD
rs1585567641 CA369571394	30	W>*		No	ClinGen Ensembl
rs146180153 CA4511453	30	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA369577345 rs1303682892	33	T>I		No	ClinGen gnomAD
CA369577356 rs752977856	34	S>*		No	ClinGen ExAC TOPMed gnomAD
CA4511466 rs752977856	34	S>L		No	ClinGen ExAC TOPMed gnomAD
CA4511467 rs759010950	35	A>T		No	ClinGen ExAC TOPMed
CA4511468 rs778130039	35	A>V		No	ClinGen ExAC gnomAD
rs137899905 CA4511469	38	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs757418800 CA4511470	39	L>P		No	ClinGen ExAC gnomAD
CA369577425 rs1274475513	40	E>G		No	ClinGen gnomAD
CA4511472 rs564781973	43	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4511473 rs564781973	43	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs564781973 CA369577482	43	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs778831274 CA4511475	47	P>S		No	ClinGen ExAC gnomAD
rs1462395723 CA369577598	49	P>L		No	ClinGen gnomAD
rs1316940679 CA369577602	50	S>P		No	ClinGen TOPMed
rs377026714 CA4511476	51	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771838691 CA4511477	53	I>T		No	ClinGen ExAC gnomAD
rs1336929892 CA369577694	55	N>D		No	ClinGen gnomAD
rs143035930 CA4511480	60	R>C	Variant assessed as Somatic; 0.0002774 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4511481 VAR_014157 rs6138	60	R>H	allele CYP5A1*2 [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10606012 rs6138	60	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759277158 CA4511482	61	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1584732589 CA369577774	61	Q>R		No	ClinGen Ensembl
CA167943739 rs963029671	62	G>C		No	ClinGen gnomAD
CA369578341 rs1569505686	62	G>D		No	ClinGen Ensembl
CA243208 RCV000177112 rs775012519	65	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs762628361 CA4511503	67	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA369578423 rs1489890758	68	M>R		No	ClinGen gnomAD
CA369578451 rs1198833745	69	E>D		No	ClinGen gnomAD
CA202277 RCV000903952 RCV000177111 rs140463378	70	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4512095 VAR_044391 VAR_055566 VAR_058465 rs13306050	70	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369578504 rs1471289738	72	K>N		No	ClinGen gnomAD
rs774822571 CA4511504	74	Y>C		No	ClinGen ExAC gnomAD
rs1372967348 CA369578521	74	Y>H		No	ClinGen TOPMed
rs768124977 RCV000729384 CA4511506	75	G>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA369578568 rs1364284823	77	L>M		No	ClinGen gnomAD
CA4511508 rs756151303	77	L>P		No	ClinGen ExAC TOPMed gnomAD
CA369578591 rs1302001301	78	C>F		No	ClinGen gnomAD
rs1344897956 CA369578612	79	G>E		No	ClinGen TOPMed gnomAD
CA4511510 rs766440684	79	G>R		No	ClinGen ExAC gnomAD
TCGA novel	79	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400747831 CA369583272	80	Y>C		No	ClinGen TOPMed
CA4511554 rs761127128	84	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA167947702 rs193110720	84	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372928270 CA167947704	85	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
VAR_036294 rs1016604233 CA167947703	85	R>W	Variant assessed as Somatic; 0.0 impact. a breast cancer sample; somatic mutation [NCI-TCGA, UniProt]	No	ClinGen UniProt NCI-TCGA TOPMed dbSNP gnomAD
CA167947705 rs184269562	88	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs184269562 RCV000512886 CA4511558	88	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	89	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4511559 rs149814692	89	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511560 rs144789379	92	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511561 rs767252885	93	P>T		No	ClinGen ExAC TOPMed gnomAD
rs756060703 CA4511563	95	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4511564 rs780050223	97	K>E		No	ClinGen ExAC gnomAD
rs753761062 CA4511565	97	K>T		No	ClinGen ExAC gnomAD
CA369583424 rs1365379965	99	V>M		No	ClinGen gnomAD
rs370871916 CA4511568	101	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511567 rs370871916	101	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406792884 CA369583468	102	E>*		No	ClinGen gnomAD
CA4511569 rs771726219	106	N>D		No	ClinGen ExAC gnomAD
CA4511570 rs536748649	108	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1439722090 CA369583653	111	M>I		No	ClinGen TOPMed
rs1046780438 CA167947706	111	M>R		No	ClinGen TOPMed gnomAD
CA4511600 rs139976441	112	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs545470216 CA369577893	113	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545470216 CA4511602	113	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752623907 CA4511604	114	G>S		No	ClinGen ExAC gnomAD
rs145491642 CA4511606	115	L>F		No	ClinGen ESP ExAC gnomAD
rs1446901536 CA369577927	115	L>W		No	ClinGen TOPMed
CA4511608 rs756839668	117	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4511607 rs751251261	117	F>L		No	ClinGen ExAC gnomAD
CA369577985 rs1274004112	118	K>T		No	ClinGen gnomAD
CA369578005 rs773309398	119	S>*		No	ClinGen ExAC TOPMed gnomAD
CA4511609 rs773309398	119	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1283736861 CA369578027	120	V>A		No	ClinGen gnomAD
CA369578029 rs1584893778	121	A>T		No	ClinGen Ensembl
CA4511614 rs369045472	122	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000595775 CA4511613 rs368719678	122	D>N		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4511615 rs774271298	123	S>G		No	ClinGen ExAC gnomAD
CA369578097 rs8192833	124	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1569515835 CA369578106	124	V>G		No	ClinGen Ensembl
VAR_018378 rs8192833 CA4511617	124	V>I		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4511619 rs776627683	125	L>P		No	ClinGen ExAC gnomAD
rs769647611 CA4511621	126	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4511620 rs759417784	126	F>V		No	ClinGen ExAC gnomAD
CA167950467 rs960368874	128	R>C		No	ClinGen TOPMed gnomAD
CA4511622 rs374952408	128	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs960368874 CA369578127	128	R>S		No	ClinGen TOPMed gnomAD
CA369578137 rs763711236	129	D>E		No	ClinGen ExAC gnomAD
rs762755305 CA4511623	129	D>G		No	ClinGen ExAC gnomAD
CA4511625 rs751005900	131	R>K		No	ClinGen ExAC gnomAD
CA4511626 rs761582094	131	R>S		No	ClinGen ExAC
CA167950468 rs1046174429	132	W>*		No	ClinGen TOPMed gnomAD
CA4511627 rs767167593	132	W>R		No	ClinGen ExAC TOPMed gnomAD
CA167950469 rs540770195	133	E>D		No	ClinGen gnomAD
rs750007788 CA4511628	133	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4511629 rs756499129	135	V>G		No	ClinGen ExAC gnomAD
rs549595955 CA167950471	136	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA4511630 rs549595955	136	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4511633 rs200508924	140	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1001951526 CA167950472	141	S>P		No	ClinGen Ensembl
CA4511636 rs142359181	147	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369578325 rs775130622	150	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1186006652 CA369578323	150	E>G		No	ClinGen gnomAD
rs769738510 CA4511638	150	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4511670 rs756857897	151	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4511669 rs753279904	151	M>V		No	ClinGen ExAC gnomAD
rs1455204103 CA369581542	152	V>A		No	ClinGen TOPMed
rs142284603 CA4511671	152	V>I		No	ClinGen ESP ExAC gnomAD
rs751688125 CA4511672	153	P>L		No	ClinGen ExAC gnomAD
rs781271750 CA4511675	155	I>M		No	ClinGen ExAC gnomAD
rs757613487 CA4511673	155	I>N		No	ClinGen ExAC TOPMed gnomAD
CA4511676 rs543782716	158	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs371594766 CA369581639	159	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs150999114 CA4511677	159	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs5768 RCV000964646 RCV002249588 VAR_010919 CA167952442	160	D>E	allele CYP5A1*3 [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771992790 CA4511679	160	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA167952444 rs6137 VAR_014158	162	L>I		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs6137 CA167952445	162	L>V		No	ClinGen TOPMed gnomAD
CA167952446 rs374628335	163	L>P		No	ClinGen Ensembl
rs746537232 CA369581691	164	A>P		No	ClinGen ExAC gnomAD
rs746537232 CA369581694	164	A>S		No	ClinGen ExAC gnomAD
rs746537232 CA4511681	164	A>T		No	ClinGen ExAC gnomAD
rs373695119 CA4511683	168	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4511684 rs150139510	168	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511685 rs368121899	169	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368121899 CA167952447	169	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4511687 rs775968061	170	A>E		No	ClinGen ExAC TOPMed gnomAD
CA369581781 rs775968061	170	A>G		No	ClinGen ExAC TOPMed gnomAD
CA369581775 rs1385819231	170	A>S		No	ClinGen TOPMed gnomAD
CA369581777 rs1385819231	170	A>T		No	ClinGen TOPMed gnomAD
rs775968061 CA4511686	170	A>V		No	ClinGen ExAC TOPMed gnomAD
CA369581795 rs1233394540	171	E>V		No	ClinGen TOPMed
rs1333776444 CA369581851	176	F>C		No	ClinGen gnomAD
rs1333776444 CA369581850	176	F>S		No	ClinGen gnomAD
CA369581859 rs1298817596	177	D>V		No	ClinGen TOPMed
rs767583237 CA4511691	178	I>T		No	ClinGen ExAC gnomAD
rs1337922114 CA369581872	179	Q>R		No	ClinGen gnomAD
CA4511713 rs766601203	180	R>S		No	ClinGen ExAC gnomAD
CA369581906 rs1343667486	182	Y>*		No	ClinGen TOPMed
rs750676023 CA4511715	182	Y>*		No	ClinGen ExAC
rs368219976 CA4511714	182	Y>H		No	ClinGen ESP ExAC TOPMed
TCGA novel	186	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369581938 rs1208000348	186	T>I		No	ClinGen gnomAD
rs751501421 CA4511718	187	T>I		No	ClinGen ExAC TOPMed gnomAD
CA369581969 rs1195966824	188	D>E		No	ClinGen gnomAD
rs1439737020 CA369581992	190	V>A		No	ClinGen gnomAD
CA167952683 rs868233405	192	S>I		No	ClinGen Ensembl
rs757190665 CA369582023	192	S>R		No	ClinGen ExAC TOPMed gnomAD
rs372058761 CA4511720	193	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs769131779 CA369582040	194	A>P		No	ClinGen ExAC TOPMed gnomAD
rs769131779 CA4511723	194	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4511724 rs779880193	195	F>S		No	ClinGen ExAC gnomAD
TCGA novel	195	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4511725 rs560818343	197	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA369582079 rs1346327225	197	T>P		No	ClinGen gnomAD
CA4511726 rs138612126	198	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140278426 CA4511727	198	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369582098 rs1275198579	199	V>M		No	ClinGen gnomAD
CA4511730 rs773533669	201	S>Y		No	ClinGen ExAC gnomAD
rs1301125025 CA369582140	202	W>*		No	ClinGen TOPMed
CA369582136 rs1354346039	202	W>*		No	ClinGen gnomAD
rs766406648 CA4511732	204	A>D		No	ClinGen ExAC gnomAD
CA369582164 rs1218879248	204	A>S		No	ClinGen gnomAD
rs267601314 CA167952685	205	P>L		No	ClinGen Ensembl
CA4511735 rs143125111	207	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1477215591 CA369582207	207	D>V		No	ClinGen gnomAD
CA369582212 rs137946697	208	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511736 rs137946697 RCV000728919	208	P>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA369582226 rs757201633	210	V>A		No	ClinGen ExAC TOPMed gnomAD
rs757201633 CA4511738	210	V>E		No	ClinGen ExAC TOPMed gnomAD
CA4511741 rs755704969	213	C>*		No	ClinGen ExAC gnomAD
CA369582245 rs561110643	213	C>F		No	ClinGen 1000Genomes gnomAD
rs547691074 CA4511740	213	C>R		No	ClinGen ExAC TOPMed gnomAD
CA167952686 rs561110643	213	C>S		No	ClinGen 1000Genomes gnomAD
CA369582248 rs1433962551	214	K>Q		No	ClinGen TOPMed gnomAD
CA369582257 rs779684101	215	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4511742 rs779684101	215	R>G		No	ClinGen ExAC gnomAD
rs748986878 CA4511743	215	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754669979 CA4511746	216	F>S		No	ClinGen ExAC gnomAD
rs748558139 CA369582275	218	E>*		No	ClinGen ExAC TOPMed gnomAD
rs748558139 CA4511748	218	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4511749 rs772258904	219	F>L		No	ClinGen ExAC gnomAD
rs773799620 CA4511750	220	C>Y		No	ClinGen ExAC gnomAD
CA369582318 rs1239234029	224	P>S		No	ClinGen gnomAD
CA4511752 rs376563307	225	I>V		No	ClinGen ESP ExAC gnomAD
rs148258306 CA369582353	227	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148258306 CA4511755	227	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1163350946 CA369582382	229	L>I		No	ClinGen gnomAD
TCGA novel	233	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4511787 rs554610146	234	S>F		No	ClinGen 1000Genomes ExAC
CA369582678 rs1220004529	236	M>L		No	ClinGen gnomAD
CA369582702 rs777345226	239	L>P		No	ClinGen gnomAD
CA167952939 rs777345226	239	L>R		No	ClinGen gnomAD
CA369582703 rs1311266734	240	A>T		No	ClinGen TOPMed
rs1300802435 CA369582708	240	A>V		No	ClinGen gnomAD
TCGA novel	241	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568328354 CA4511790	241	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778269471 CA4511789	241	R>W		No	ClinGen ExAC gnomAD
rs1400012855 CA369582732	245	N>D		No	ClinGen gnomAD
VAR_010920 rs55856189 CA4511792	245	N>S	allele CYP5A1*4 [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA167952941 rs200644306	248	R>*		No	ClinGen TOPMed gnomAD
CA4511793 rs141602429	248	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1331998348 CA369582764	249	D>E		No	ClinGen TOPMed gnomAD
rs1277924431 CA369582758	249	D>H		No	ClinGen gnomAD
rs1277924431 CA369582760	249	D>N		No	ClinGen gnomAD
rs267601315 CA4511795	250	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511796 rs267601315	250	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs929238562 CA167952942	251	L>M		No	ClinGen TOPMed
CA4511797 rs768745298	252	N>K		No	ClinGen ExAC TOPMed gnomAD
CA369582788 rs1344926915	253	G>V		No	ClinGen gnomAD
CA369582790 rs1569519412	254	F>L		No	ClinGen Ensembl
TCGA novel	255	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369582803 rs1569519415	255	F>L		No	ClinGen Ensembl
rs1238810672	256	N>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4511798 VAR_014647 rs5769 RCV000968616	257	K>E	the KM value is about 1.5 higher for PEG2; in allele CYP5A1*5; KM value about 1.5 higher for PEG2; Vmax/KM approximately 50% of that of the wild-type [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4511799 rs760550262	258	L>P		No	ClinGen ExAC gnomAD
VAR_014648 rs5770 CA167952944	260	R>G		No	ClinGen UniProt Ensembl dbSNP
rs776731492 CA4511801	263	I>F		No	ClinGen ExAC gnomAD
CA167952946 rs145426879	266	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511804 rs145426879	266	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs140774405 CA4511803	266	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1382286873 CA369582873	267	D>H		No	ClinGen TOPMed gnomAD
CA369582872 rs1382286873	267	D>N		No	ClinGen TOPMed gnomAD
CA369582880 rs1584951733	268	Q>*		No	ClinGen Ensembl
CA369582884 rs1417967721	268	Q>R		No	ClinGen gnomAD
CA369582897 rs1288457690	270	A>T		No	ClinGen gnomAD
CA4511806 rs756029091	272	E>A		No	ClinGen ExAC gnomAD
rs762726298 CA4511805	272	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4511829 rs201485922	275	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4511828 rs761419784	275	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1466415913 CA369583858	276	R>K		No	ClinGen gnomAD
rs1466415913 CA369583861	276	R>T		No	ClinGen gnomAD
CA369583897 rs1584959737	277	D>E		No	ClinGen Ensembl
CA4511830 rs750770036	277	D>N		No	ClinGen ExAC gnomAD
CA369583925 rs1366372316	278	F>S		No	ClinGen TOPMed
CA369583973 rs1297087280	281	M>I		No	ClinGen gnomAD
rs1461978002 CA369583963	281	M>V		No	ClinGen gnomAD
rs984477403 CA167953439	282	V>L		No	ClinGen TOPMed gnomAD
rs199733937 CA167953440	283	L>P		No	ClinGen ESP TOPMed gnomAD
CA4511831 rs756441005	284	D>N		No	ClinGen ExAC gnomAD
rs1354430288 CA369584017	285	A>P		No	ClinGen gnomAD
rs766799764 RCV000599095 CA4511832	286	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs766799764 CA369584028	286	R>G		No	ClinGen ExAC TOPMed gnomAD
rs373090253 CA4511833	286	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA369584039 rs1203779981	287	H>Y		No	ClinGen gnomAD
rs1256548510 CA369584080	289	A>T		No	ClinGen gnomAD
CA4511835 rs779114003	292	M>I		No	ClinGen ExAC gnomAD
rs755034312 CA4511834	292	M>T		No	ClinGen ExAC TOPMed gnomAD
rs758689918 CA4511837	293	G>D		No	ClinGen ExAC gnomAD
CA4511836 rs748420937	293	G>R		No	ClinGen ExAC gnomAD
CA4511841 rs13306052	294	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200064479 CA4511842	296	D>N		No	ClinGen ExAC gnomAD
RCV000413403 rs1057518055	298	D>missing		No	ClinVar dbSNP
TCGA novel	299	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4511844 rs773843069	300	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1310612979 CA369584412	301	R>I		No	ClinGen gnomAD
rs1310612979 CA369584405	301	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4511845 rs181415079	302	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	302	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4511847 rs772851878	303	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	304	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369584523 rs1199815983	305	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA369584546 rs1213798721	306	S>F		No	ClinGen gnomAD
rs1359555179 CA369584532	306	S>P		No	ClinGen gnomAD
rs760976514 CA4511848	307	T>A		No	ClinGen ExAC gnomAD
CA167953443 rs910661292	309	C>Y		No	ClinGen gnomAD
rs371008827 CA4511849	310	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs754350556 CA4511850	310	K>T		No	ClinGen ExAC TOPMed gnomAD
rs202115912 CA4511852	311	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4511851 rs202115912	311	P>R		No	ClinGen ExAC TOPMed gnomAD
rs758496547 CA4511854	315	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1427859408 CA369584757	315	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA167953446 VAR_014649 rs5771	316	Q>K		No	ClinGen UniProt Ensembl dbSNP
CA4511858 rs747217876	318	Q>E		No	ClinGen ExAC
CA369584795 rs1373094310	318	Q>L		No	ClinGen TOPMed
rs755886818 CA4511859	319	P>R		No	ClinGen ExAC gnomAD
CA4511861 rs767320554	321	P>R		No	ClinGen ExAC TOPMed gnomAD
rs779880644 CA4511860	321	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774212687 CA167953447	322	M>K		No	ClinGen ExAC gnomAD
rs774212687 CA4511863	322	M>T		No	ClinGen ExAC gnomAD
CA4511862 rs768564320	322	M>V		No	ClinGen ExAC gnomAD
CA4511864 rs747659359	323	A>P		No	ClinGen ExAC gnomAD
CA369584886 rs1302728912	323	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1416520013 CA369585001	330	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1282335665 CA369585008	330	E>V		No	ClinGen gnomAD
rs772760722 CA4511866	331	I>F		No	ClinGen ExAC gnomAD
RCV000394990 rs6140 VAR_014159 CA4511867	331	I>T		No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs771239270 CA4511868	333	G>V		No	ClinGen ExAC gnomAD
CA167953448 rs935222803	334	Q>*		No	ClinGen Ensembl
rs760178652 CA4511870	335	A>T		No	ClinGen ExAC gnomAD
rs1405341227 CA369585114	335	A>V		No	ClinGen gnomAD
CA369585152 rs1399815008	337	I>N		No	ClinGen gnomAD
rs1164172509 CA369585145	337	I>V		No	ClinGen gnomAD
rs1351448955 CA369585168	338	F>V		No	ClinGen gnomAD
rs1438486732 CA369585213	340	I>N		No	ClinGen gnomAD
rs1569520131 CA369585223	341	A>T		No	ClinGen Ensembl
CA4511872 rs530584971	341	A>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	344	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764187478 CA4511874	347	T>I		No	ClinGen ExAC gnomAD
rs1350198612 CA369585365	348	N>S		No	ClinGen gnomAD
rs1229140885 CA369585389	349	T>I		No	ClinGen gnomAD
rs1292327840 CA369585396	350	L>I		No	ClinGen gnomAD
CA167953450 rs1047378163	350	L>P		No	ClinGen TOPMed
rs145733169 CA4511875	353	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757474682 CA4511876	354	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4511877 rs779766759	355	Y>H		No	ClinGen ExAC gnomAD
VAR_010921 rs4529	356	L>V	allele CYP5A1*5; KM value about 1.5 higher for PEG2; Vmax/KM approximately 27% of that of the wild-type [UniProt]	No	UniProt dbSNP
rs4529 VAR_044387	357	L>V		No	UniProt dbSNP
CA369585486 rs1183338980	358	A>S		No	ClinGen gnomAD
CA369585490 rs1230729120	359	T>A		No	ClinGen gnomAD
rs1469283589 CA369585495	359	T>I		No	ClinGen gnomAD
CA167953451 rs267601316	360	N>S		No	ClinGen Ensembl
CA369585520 rs778850867	363	C>S		No	ClinGen ExAC gnomAD
rs778850867 CA4511881	363	C>Y		No	ClinGen ExAC gnomAD
rs1164033182 CA369585530	364	Q>H		No	ClinGen gnomAD
CA369585561 rs1326899994	369	R>K		No	ClinGen gnomAD
rs748027473 CA4511883	371	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1448876968 CA369585583	372	D>G		No	ClinGen gnomAD
CA167953452 rs375792037	373	V>I		No	ClinGen TOPMed
rs374616816 CA167953453	376	E>D		No	ClinGen ESP
CA4511884 rs771618602	378	H>N		No	ClinGen ExAC gnomAD
CA4511909 rs536936578	379	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA167958686 rs867518936	379	M>T		No	ClinGen Ensembl
CA369513483 rs1357348273	379	M>V		No	ClinGen TOPMed
CA369513513 rs1569524512	380	A>T		No	ClinGen Ensembl
CA369513541 rs1263498447	381	P>L		No	ClinGen gnomAD
rs368716167 CA4511912	383	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
VAR_018379 RCV000173726 VAR_055565 rs3735354 CA239176	387	E>K		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369513640 rs3735354	387	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_018379 rs3735354	388	E>K		No	UniProt dbSNP
rs1258779130 CA369513683	389	G>R		No	ClinGen TOPMed
rs5760 VAR_016158 CA167958687	389	G>V		No	ClinGen UniProt Ensembl dbSNP
rs765076182 CA4511916	390	L>R		No	ClinGen ExAC gnomAD
rs1332151448 CA369513775	395	M>I		No	ClinGen gnomAD
rs754978014 CA4511920	395	M>K		No	ClinGen ExAC TOPMed gnomAD
rs758061526 CA4511919	395	M>L		No	ClinGen ExAC TOPMed gnomAD
rs758061526 CA4511918	395	M>V		No	ClinGen ExAC TOPMed gnomAD
rs201269727 CA4511921 CA369513780	396	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4511922 rs780814939	397	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	398	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs78666490 CA4511923	400	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1023928251 CA167958688	402	R>G		No	ClinGen Ensembl
rs1260825095 CA369513890	402	R>S		No	ClinGen gnomAD
CA369513896 rs1569524530	403	M>L		No	ClinGen Ensembl
CA369513924 rs1195367959	404	Y>S		No	ClinGen gnomAD
rs371738923 CA4511928	405	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA369513928 rs1251092372	405	P>T		No	ClinGen gnomAD
rs1451951678 CA369513944	407	A>T		No	ClinGen gnomAD
CA369513951 rs1158335544	408	F>L		No	ClinGen gnomAD
rs1309732696 CA369513958	409	R>G		No	ClinGen TOPMed
CA4511930 rs13306055	409	R>K		No	ClinGen ExAC TOPMed gnomAD
rs200525534 CA4511961	412	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	414	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754575232 CA4511962	415	A>T		No	ClinGen ExAC gnomAD
VAR_010922 rs4528 RCV000947073 CA4511963	416	Q>E	allele CYP5A1*6; does not affect KM value for PEG2; does not affect Vmax/KM value [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs13306049 CA167959684	418	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1214948882 CA369517406	418	C>R		No	ClinGen TOPMed gnomAD
rs150087656 CA4511965	419	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA167959685 rs1033188296	421	L>P		No	ClinGen TOPMed gnomAD
rs1003009961 CA167959686	422	G>R		No	ClinGen TOPMed
CA369517493 rs1453022555	423	Q>*		No	ClinGen TOPMed
CA369517499 rs1208936187	423	Q>R		No	ClinGen TOPMed gnomAD
VAR_014160 rs5762 CA4511968	424	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781107536 CA4511969	424	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781107536 CA369517535	424	R>P		No	ClinGen ExAC TOPMed gnomAD
CA369517550 rs1569525364	425	I>T		No	ClinGen Ensembl
rs971460206 CA167959687	425	I>V		No	ClinGen gnomAD
CA369517574 rs1428508754	426	P>S		No	ClinGen TOPMed gnomAD
CA4511972 rs2286199	427	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369517618 rs1436081690	427	A>V		No	ClinGen gnomAD
VAR_014161 RCV000955383 rs4526 CA4511974	429	A>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs531890821 CA4511975	430	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs920428551 CA167959689	430	V>L		No	ClinGen gnomAD
CA167959688 rs920428551	430	V>M		No	ClinGen gnomAD
rs760670865 CA4511977	432	E>Q		No	ClinGen ExAC
CA4511978 rs766046892	433	M>V		No	ClinGen ExAC gnomAD
rs1021649967 CA167959690	434	A>V		No	ClinGen TOPMed gnomAD
CA4511980 rs759019222	435	V>M		No	ClinGen ExAC TOPMed gnomAD
CA167959691 rs886217903	436	G>C		No	ClinGen Ensembl
rs1433810760 CA369517774	437	A>T		No	ClinGen TOPMed
rs568856853 CA4511982	437	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4511984 rs758793578	438	L>P		No	ClinGen ExAC gnomAD
rs1485761397 CA369517803	439	H>Y		No	ClinGen gnomAD
CA4511986 rs752108207	440	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs781397587 CA4511988	443	E>G		No	ClinGen ExAC TOPMed gnomAD
CA369517861 rs879069362	443	E>K		No	ClinGen gnomAD
CA167959692 rs879069362	443	E>Q		No	ClinGen gnomAD
CA4511989 rs745935423	444	H>N		No	ClinGen ExAC gnomAD
CA4511990 rs756173369	444	H>P		No	ClinGen ExAC gnomAD
CA369517885 rs745935423	444	H>Y		No	ClinGen ExAC gnomAD
rs780174620 CA4511991	445	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1160990683 CA369517905	445	W>*		No	ClinGen gnomAD
rs113298427 CA4511993	447	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773129737 CA4511994	448	P>L		No	ClinGen ExAC TOPMed gnomAD
VAR_010923 RCV002065154 rs8192868 RCV000596946 CA4511996	449	E>K	allele CYP5A1*7; does not affect KM value for PEG2; does not affect Vmax/KM value [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs5763 CA4511997 RCV002059221 VAR_010924 RCV000374826	450	T>N	allele CYP5A1*8; KM value about 1.5 higher for PEG2; Vmax/KM approximately 56 % of that of the wild-type [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758990676 CA4511998	451	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4512000 rs775043078	452	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1020448918 CA167959694	452	N>S		No	ClinGen TOPMed
rs1282464781 CA369518071	455	R>K		No	ClinGen TOPMed gnomAD
rs200831963 CA4512024	457	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4512023 rs762103740	457	T>P		No	ClinGen ExAC gnomAD
CA4512026 rs756633372	459	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1221029255 CA369519617	459	E>V		No	ClinGen TOPMed
rs753974178 CA4512028	460	A>D		No	ClinGen ExAC gnomAD
CA4512030 rs5764	461	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1259191382 CA369519678	461	R>L		No	ClinGen TOPMed gnomAD
rs1259191382 CA369519684	461	R>Q		No	ClinGen TOPMed gnomAD
CA4512029 rs5764	461	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752926435 CA4512031	463	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA369519837 rs41311778	465	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4512034 RCV000732832 rs41311778 RCV001824873 VAR_010925	465	R>Q	allele CYP5A1*9 [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199972292 CA4512033	465	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769763588 CA4512036	468	T>M		No	ClinGen ExAC TOPMed gnomAD
CA369519874 rs1166208391	468	T>P		No	ClinGen gnomAD
rs1175687176 CA369519917	469	Y>C		No	ClinGen gnomAD
CA369520010 rs1569525576	471	P>L		No	ClinGen Ensembl
CA369520044 rs1569525577	472	F>L		No	ClinGen Ensembl
CA4512041 CA4512040 rs149988492	473	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1319466558 CA369520105	473	G>V		No	ClinGen gnomAD
CA4512042 rs535281830	474	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	475	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139418226 CA4512045	475	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA369520214 rs1340763579	476	P>L		No	ClinGen gnomAD
CA4512047 rs371681873	477	R>Q		No	ClinGen ESP ExAC gnomAD
CA4512046 rs754348867	477	R>W		No	ClinGen ExAC gnomAD
CA4512048 rs765376370	478	S>R		No	ClinGen ExAC gnomAD
rs753016461 CA4512049	479	C>R		No	ClinGen ExAC gnomAD
TCGA novel	480	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4512051 rs199422116	481	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1585068863 CA369520437	482	V>G		No	ClinGen Ensembl
CA4512052 rs750234302	482	V>M		No	ClinGen ExAC gnomAD
rs1050770787 CA167962791	483	R>C		No	ClinGen Ensembl
rs755804900 CA4512053	483	R>H		No	ClinGen ExAC TOPMed gnomAD
rs376254592 CA167962796	485	G>R		No	ClinGen ESP
rs144073388 CA369520508	486	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159482469 CA369520518	487	L>F		No	ClinGen gnomAD
TCGA novel	489	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4512055 rs749181041	489	V>I		No	ClinGen ExAC
CA4512056 rs768208245	490	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1569525613 CA369520598	490	K>R		No	ClinGen Ensembl
rs1441004127 CA369520635	491	L>F		No	ClinGen TOPMed gnomAD
CA369520609 rs1569525615	491	L>V		No	ClinGen Ensembl
rs1007119744 CA167962834	494	L>F		No	ClinGen Ensembl
CA369520721 rs1284835194	495	H>L		No	ClinGen gnomAD
CA4512059 rs747825074	496	V>M		No	ClinGen ExAC TOPMed gnomAD
rs771761018 CA4512060	497	L>M		No	ClinGen ExAC gnomAD
rs1043926975 CA167962853	497	L>P		No	ClinGen gnomAD
rs761124182 CA4512062	498	H>Q		No	ClinGen ExAC gnomAD
rs772683389 CA4512061	498	H>Y		No	ClinGen ExAC gnomAD
CA4512063 rs80244437	499	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4512064 rs571830700	500	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1569525621 CA369520913	500	F>L		No	ClinGen Ensembl
VAR_018380 CA4512066 rs8192864	501	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs539344678 CA4512065	501	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	502	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468913749 CA369521023	503	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA167962867 rs1031539835	505	C>Y		No	ClinGen TOPMed gnomAD
rs1395823522 CA369521205	508	T>I		No	ClinGen gnomAD
rs1395823522 CA369521204	508	T>S		No	ClinGen gnomAD
rs762870650 CA369521234	509	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	511	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369522323 rs1204652198	511	P>A		No	ClinGen gnomAD
rs13306050 VAR_055566	511	P>L		No	UniProt dbSNP
rs759354516 CA4512098	512	L>P		No	ClinGen ExAC gnomAD
VAR_044391 rs13306050	512	L>P		No	UniProt dbSNP
rs752538699 CA4512099	514	L>P		No	ClinGen ExAC gnomAD
CA369522444 rs1374241684	515	E>D		No	ClinGen gnomAD
rs199906594 CA4512100	515	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	517	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4512101 rs777123902	520	L>P		No	ClinGen ExAC gnomAD
CA4512102 rs746731200	521	G>D		No	ClinGen ExAC gnomAD
rs748691839	524	N>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs780924927 CA4512105	527	Y>C		No	ClinGen ExAC TOPMed
rs200093421 CA369522748	529	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369522757 rs1569525798	530	I>F		No	ClinGen Ensembl
CA4512109 rs185290287	531	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4512110 rs576405356	532	S>T		No	ClinGen ExAC TOPMed gnomAD
CA4512112 rs201159138	533	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA4512113 rs761818836	533	R>H		No	ClinGen ExAC gnomAD
CA369522817 rs1209137667	534	R>R		No	ClinGen gnomAD

2 associated diseases with P24557

[MIM: 231095]: Ghosal hematodiaphyseal dysplasia (GHDD)

Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. {ECO:0000269|PubMed:18264100}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. {ECO:0000269|PubMed:18264100}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P24557

Type	Name	Position	InterPro Accession
conserved_site	Ribosomal protein S3Ae, conserved site	62 - 74	IPR018281

Functions

		Description
EC Number	4.2.1.152	Hydro-lyases
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

7 GO annotations of molecular function

Name	Definition
12-hydroxyheptadecatrienoic acid synthase activity	Catalysis of the reaction: prostaglandin H2 = 12-hydroxyheptadecatrienoic acid (HHT) + malonaldehyde (MDA).
heme binding	Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
hydroperoxy icosatetraenoate dehydratase activity	A hydroperoxy icosatetraenoate <=> an oxoicosatetraenoate + H(2)O.
iron ion binding	Binding to an iron (Fe) ion.
monooxygenase activity	Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water.
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor.
thromboxane-A synthase activity	Catalysis of the reaction: prostaglandin H(2) = thromboxane A(2).

7 GO annotations of biological process

Name	Definition
cellular chloride ion homeostasis	Any process involved in the maintenance of an internal steady state of chloride ions at the level of a cell.
cyclooxygenase pathway	The chemical reactions and pathways by which prostaglandins are formed from arachidonic acid, and in which prostaglandin-endoperoxide synthase (cyclooxygenase) catalyzes the committed step in the conversion of arachidonic acid to the prostaglandin-endoperoxides PGG2 and PGH2.
icosanoid metabolic process	The chemical reactions and pathways involving icosanoids, any of a group of C20 polyunsaturated fatty acids.
positive regulation of vasoconstriction	Any process that activates or increases the frequency, rate or extent of vasoconstriction.
prostaglandin biosynthetic process	The chemical reactions and pathways resulting in the formation of prostaglandins, any of a group of biologically active metabolites which contain a cyclopentane ring.
response to ethanol	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 an ethanol stimulus.
response to fatty acid	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 fatty acid stimulus.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P79102	CYP3A28	Cytochrome P450 3A28	Bos taurus (Bovine)	PR
Q2KIG5	TBXAS1	Thromboxane-A synthase	Bos taurus (Bovine)	PR
Q9V776	Cyp317a1	Probable cytochrome P450 317a1	Drosophila melanogaster (Fruit fly)	PR
Q9V4U9	Cyp6a13	Probable cytochrome P450 6a13	Drosophila melanogaster (Fruit fly)	PR
Q9V773	Cyp6a20	Probable cytochrome P450 6a20	Drosophila melanogaster (Fruit fly)	PR
Q9V4U7	Cyp6a14	Probable cytochrome P450 6a14	Drosophila melanogaster (Fruit fly)	PR
Q9VG82	Cyp9f2	Probable cytochrome P450 9f2	Drosophila melanogaster (Fruit fly)	PR
P36423	Tbxas1	Thromboxane-A synthase	Mus musculus (Mouse)	PR
Q27513	cyp-13A4	Putative cytochrome P450 CYP13A4	Caenorhabditis elegans	PR
Q27519	cyp-13A7	Putative cytochrome P450 CYP13A7	Caenorhabditis elegans	PR
Q27518	cyp-13A2	Putative cytochrome P450 CYP13A2	Caenorhabditis elegans	PR
Q09653	cyp-13A10	Putative cytochrome P450 CYP13A10	Caenorhabditis elegans	PR
B9DFU2	CYP711A1	Cytochrome P450 711A1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEALGFLKLE	VNGPMVTVAL	SVALLALLKW	YSTSAFSRLE	KLGLRHPKPS	PFIGNLTFFR
70	80	90	100	110	120
QGFWESQMEL	RKLYGPLCGY	YLGRRMFIVI	SEPDMIKQVL	VENFSNFTNR	MASGLEFKSV
130	140	150	160	170	180
ADSVLFLRDK	RWEEVRGALM	SAFSPEKLNE	MVPLISQACD	LLLAHLKRYA	ESGDAFDIQR
190	200	210	220	230	240
CYCNYTTDVV	ASVAFGTPVD	SWQAPEDPFV	KHCKRFFEFC	IPRPILVLLL	SFPSIMVPLA
250	260	270	280	290	300
RILPNKNRDE	LNGFFNKLIR	NVIALRDQQA	AEERRRDFLQ	MVLDARHSAS	PMGVQDFDIV
310	320	330	340	350	360
RDVFSSTGCK	PNPSRQHQPS	PMARPLTVDE	IVGQAFIFLI	AGYEIITNTL	SFATYLLATN
370	380	390	400	410	420
PDCQEKLLRE	VDVFKEKHMA	PEFCSLEEGL	PYLDMVIAET	LRMYPPAFRF	TREAAQDCEV
430	440	450	460	470	480
LGQRIPAGAV	LEMAVGALHH	DPEHWPSPET	FNPERFTAEA	RQQHRPFTYL	PFGAGPRSCL
490	500	510	520	530
GVRLGLLEVK	LTLLHVLHKF	RFQACPETQV	PLQLESKSAL	GPKNGVYIKI	VSR