AiPD: Autoinhibited Protein Database

P07384

Gene name	CAPN1
Protein name	Calpain-1 catalytic subunit
Names	Calcium-activated neutral proteinase 1, CANP 1, Calpain mu-type, Calpain-1 large subunit, Cell proliferation-inducing gene 30 protein, Micromolar-calpain, muCANP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:823
EC number	3.4.22.52: Cysteine endopeptidases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-59 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-59 (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

6 structures for P07384

Entry ID	Method	Resolution	Chain	Position	Source
1ZCM	X-ray	200 A	A	33-353	PDB
2ARY	X-ray	240 A	A/B	29-360	PDB
7W7O	X-ray	159 A	A	27-360	PDB
7X79	X-ray	180 A	A	1-714	PDB
8GX3	X-ray	199 A	A	1-714	PDB
AF-P07384-F1	Predicted				AlphaFoldDB

626 variants for P07384

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001290095 rs1948565964	85	W>*	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinVar dbSNP
rs875989845 RCV000211053	136	P>missing	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinVar dbSNP
RCV001008553 rs778722037 RCV000988577	208	G>missing	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinVar dbSNP
rs776839253 RCV001290096	208	G>D	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinVar dbSNP
RCV000211054 VAR_077899 CA10576095 rs756205995	295	R>P	Autosomal recessive spastic paraplegia type 76 SPG76 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001290097 rs1428333006 RCV001269885	335	W>*	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinVar dbSNP
RCV001251140 CA223932271 rs1033887530	339	R>*	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1948677308 RCV001269989 RCV001290098	377	R>missing	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinVar dbSNP
CA223932412 rs955142329 RCV001290099 RCV000578698	385	R>*	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000988578 RCV002549715 CA6093326 rs756830713	392	W>*	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
CA381250474 rs1471188671 RCV001290101	447	E>D	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinGen gnomAD ClinVar dbSNP
RCV001290102 rs1948961118	473	R>missing	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinVar dbSNP
RCV000708580 CA223941239 rs763471308	481	R>Q	Autosomal recessive spastic paraplegia type 76 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs875989787 CA10576096 RCV000211052	527	Q>*	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1948992593 RCV001290103	566	L>missing	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinVar dbSNP
RCV001290104 RCV001269589 rs1949027966	657	E>*	Autosomal recessive spastic paraplegia type 76 [ClinVar]	Yes	ClinVar dbSNP
CA381239779 rs867375600	2	S>L		No	ClinGen gnomAD
CA381239776 rs1408312036	2	S>P		No	ClinGen gnomAD
rs867375600 CA223929696	2	S>W		No	ClinGen gnomAD
CA223929698 rs986325029	5	I>V		No	ClinGen Ensembl
rs376855071 CA381239882	7	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6092946 rs376855071	7	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs759799324 CA6092948	8	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1055185439 CA223929701	8	P>S		No	ClinGen TOPMed
CA381239913 rs1340797663	9	V>L		No	ClinGen gnomAD
CA223929705 rs989863767	10	Y>H		No	ClinGen gnomAD
rs1335154120 CA381239949	11	C>R		No	ClinGen gnomAD
CA381239989 rs866068675	13	G>E		No	ClinGen gnomAD
rs866068675 CA223929706	13	G>V		No	ClinGen gnomAD
CA6092953 rs750381675	18	V>L		No	ClinGen ExAC
TCGA novel	19	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280186262 CA381240085	19	Q>R		No	ClinGen TOPMed
rs1474448027 CA381240119	21	Q>*		No	ClinGen gnomAD
rs564035889 CA6092954	22	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381240137 rs1565385504	22	R>W		No	ClinGen Ensembl
CA6092955 rs532996410	24	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381240192 rs1397050966	25	E>D		No	ClinGen TOPMed
CA381240178 rs1462171940	25	E>K		No	ClinGen TOPMed
CA381240204 rs1157412907	27	G>R		No	ClinGen TOPMed
CA381240234 rs1400583348	28	L>R		No	ClinGen TOPMed
rs867076976 CA223929711	30	R>G		No	ClinGen gnomAD
rs1047886701 CA223929712	30	R>H		No	ClinGen TOPMed gnomAD
CA381240340 rs1269139939	35	I>M		No	ClinGen gnomAD
rs1334933499 CA381240356	36	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	36	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867213413 CA223929718	37	Y>*		No	ClinGen Ensembl
CA381240370 rs1234678397	37	Y>H		No	ClinGen gnomAD
CA381240440 rs1334562334	40	Q>H		No	ClinGen gnomAD
CA381240490 rs1206146263	43	E>K		No	ClinGen gnomAD
rs1445826860 CA381240515	44	Q>*		No	ClinGen gnomAD
rs1193114883 CA381240524	44	Q>H		No	ClinGen gnomAD
CA6092957 rs768464355	46	R>Q		No	ClinGen ExAC gnomAD
CA223929721 rs374461873	46	R>W		No	ClinGen ESP TOPMed gnomAD
CA6092958 rs778729807	47	V>A		No	ClinGen ExAC TOPMed gnomAD
rs748403811 CA6092959	48	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381240580 rs1158999147	49	C>R		No	ClinGen gnomAD
rs1387033300 CA381240585	49	C>S		No	ClinGen gnomAD
CA381240644 rs1398823529	53	G>R		No	ClinGen gnomAD
CA6092961 rs773586585	55	L>V		No	ClinGen ExAC gnomAD
CA381240714 rs1284951664	56	F>L		No	ClinGen TOPMed
rs770891480 CA6092963	57	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6092964 rs776728125	57	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776728125 CA223929731	57	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759639895 CA6092965	58	D>E		No	ClinGen ExAC gnomAD
rs1240187034 CA381240738	58	D>Y		No	ClinGen gnomAD
CA381240752 rs1348985011	59	E>K		No	ClinGen gnomAD
rs1281691441 CA381240770	60	A>T		No	ClinGen TOPMed gnomAD
rs761450074 CA6092969	62	P>H		No	ClinGen ExAC TOPMed gnomAD
rs752934003 CA6092968	62	P>S		No	ClinGen ExAC gnomAD
CA381240846 rs1184269173	63	P>R		No	ClinGen gnomAD
CA381240838 rs1346307250	63	P>S		No	ClinGen TOPMed
RCV001008845 rs758312955	64	V>missing		No	ClinVar dbSNP
CA381240868 rs1392651030	64	V>G		No	ClinGen TOPMed
rs1157926837 CA381240880	65	P>L		No	ClinGen gnomAD
CA6092972 rs756128172	65	P>T		No	ClinGen ExAC TOPMed gnomAD
CA6092973 rs765955979	67	S>I		No	ClinGen ExAC gnomAD
rs1310602528 CA381240946	69	G>C		No	ClinGen TOPMed gnomAD
TCGA novel	69	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1310602528 CA381240942	69	G>S		No	ClinGen TOPMed gnomAD
rs754549070 CA6092975	70	Y>H		No	ClinGen ExAC gnomAD
rs754549070 CA381240951	70	Y>N		No	ClinGen ExAC gnomAD
rs1391539297 CA381240963	71	K>Q		No	ClinGen gnomAD
rs1330507553 CA381241016	73	L>P		No	ClinGen gnomAD
rs201318945 CA6092976	74	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA381241026 rs1334299370	74	G>S		No	ClinGen gnomAD
rs747899828 CA6092977	75	P>H		No	ClinGen ExAC TOPMed gnomAD
CA223929749 rs988855833	76	N>S		No	ClinGen TOPMed gnomAD
rs778246962 CA6092979	79	K>E		No	ClinGen ExAC gnomAD
CA6092980 rs747439112	80	T>S		No	ClinGen ExAC gnomAD
CA381241203 rs1279632876	83	I>T		No	ClinGen TOPMed
rs771383732 CA6092981	86	K>N		No	ClinGen ExAC gnomAD
CA6092982 rs777149581	87	R>H		No	ClinGen ExAC gnomAD
CA381241308 rs777149581	87	R>L		No	ClinGen ExAC gnomAD
rs775574707	89	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA6092984 rs769869270	89	T>M		No	ClinGen ExAC TOPMed gnomAD
rs759593212 CA6093009	91	L>P		No	ClinGen ExAC TOPMed gnomAD
rs752207698 CA6093011	94	N>Y		No	ClinGen ExAC gnomAD
rs1252039527 CA381241510	95	P>R		No	ClinGen gnomAD
rs762388125 CA6093012	96	Q>P		No	ClinGen ExAC gnomAD
CA381241535 rs1293445986	98	I>N		No	ClinGen gnomAD
rs1293445986 CA381241537	98	I>T		No	ClinGen gnomAD
rs1383996328 CA381241534	98	I>V		No	ClinGen gnomAD
rs1461128299 CA381241560	100	D>G		No	ClinGen TOPMed
rs534135243 CA6093014	101	G>A		No	ClinGen ExAC TOPMed gnomAD
CA381241574 rs534135243	101	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1565386865 CA381241570	101	G>R		No	ClinGen Ensembl
CA381241591 rs1336645765	102	A>G		No	ClinGen gnomAD
CA6093015 rs757616692	102	A>T		No	ClinGen ExAC TOPMed gnomAD
rs17885718 CA6093016 VAR_021085 RCV000893648	103	T>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6093017 rs750908895	104	R>C		No	ClinGen ExAC gnomAD
CA6093018 rs201751778	104	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA381241617 rs201751778	104	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188220863 CA381241626	105	T>I		No	ClinGen gnomAD
rs749341081 CA6093020	107	I>F		No	ClinGen ExAC TOPMed
CA6093021 rs768622526	107	I>M		No	ClinGen ExAC gnomAD
COSM3398040 rs749341081 CA223929838	107	I>V	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs1188165139 CA381241715	111	A>S		No	ClinGen TOPMed gnomAD
CA381241710 rs1188165139	111	A>T		No	ClinGen TOPMed gnomAD
rs1337061704 CA381241842	113	G>E		No	ClinGen TOPMed
rs1590846951 CA381241740	113	G>W		No	ClinGen Ensembl
CA381241873 rs1455042373	117	L>P		No	ClinGen gnomAD
rs758562395 CA6093064	119	A>V		No	ClinGen ExAC TOPMed gnomAD
CA381241898 rs17583	121	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381241893 rs1590847348	121	I>V		No	ClinGen Ensembl
rs1171372208 CA381241908	123	S>C		No	ClinGen gnomAD
rs577679236 CA223929960	123	S>P		No	ClinGen 1000Genomes
CA223929964 rs370999727	124	L>F		No	ClinGen ESP TOPMed gnomAD
CA223929961 rs370999727	124	L>V		No	ClinGen ESP TOPMed gnomAD
rs1590847381 CA381241916	125	T>P		No	ClinGen Ensembl
TCGA novel	126	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381241932 rs374553729	127	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs755927260 CA6093068	128	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223929988 rs368184932	133	R>G		No	ClinGen ESP TOPMed
CA6093071 rs768438828	133	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774294316 CA6093072	136	P>L		No	ClinGen ExAC gnomAD
rs771575994 CA6093074	137	H>N		No	ClinGen ExAC TOPMed gnomAD
rs539922683 CA381241991 CA6093076	137	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766734966 CA6093077	138	G>A		No	ClinGen ExAC TOPMed gnomAD
CA223930003 rs1035470711	138	G>S		No	ClinGen Ensembl
RCV001268699 rs1948582433	139	Q>missing		No	ClinVar dbSNP
RCV001268700 rs1948582497	139	Q>LH		No	ClinVar dbSNP
RCV001268698 rs1948582304	139	Q>YAEP*		No	ClinVar dbSNP
CA223930013 rs372602013	140	S>N		No	ClinGen Ensembl
rs1199022092 CA381242028	143	N>D		No	ClinGen TOPMed
CA223930016 rs1054747241	144	G>D		No	ClinGen TOPMed
rs776820546 CA6093078	146	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6093080 rs765778693	147	G>S		No	ClinGen ExAC gnomAD
rs753257635 CA6093081	148	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	151	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6093102 rs751556530	153	L>R		No	ClinGen ExAC gnomAD
CA381242792 rs574685283	153	L>V		No	ClinGen gnomAD
CA381242841 rs1282715952	155	Q>*		No	ClinGen gnomAD
rs1199363262 CA381242852	155	Q>R		No	ClinGen TOPMed gnomAD
CA6093104 rs767577785	156	F>S		No	ClinGen ExAC TOPMed
CA381242930 rs1206183273	158	E>D		No	ClinGen gnomAD
CA223930948 rs888648475	159	W>C		No	ClinGen TOPMed
rs754764984 CA6093106	159	W>G		No	ClinGen ExAC gnomAD
rs1472254685 CA381243012	162	V>A		No	ClinGen TOPMed
rs752598644 CA381243004	162	V>L		No	ClinGen ExAC gnomAD
CA6093108 rs752598644	162	V>M		No	ClinGen ExAC gnomAD
CA381243036 rs1486739293	164	V>M		No	ClinGen gnomAD
CA381243099 rs1185708087	166	D>E		No	ClinGen gnomAD
rs375914303 CA6093109	168	L>P		No	ClinGen ESP ExAC gnomAD
CA381243165 rs1382148378	169	P>L		No	ClinGen gnomAD
CA381243155 rs1159043842	169	P>S		No	ClinGen gnomAD
CA381243193 rs1417303562	171	K>Q		No	ClinGen gnomAD
CA6093113 rs199993600 CA6093112	173	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1340220754 CA381243295	176	V>M		No	ClinGen TOPMed gnomAD
CA6093116 rs372952178	178	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381243336 rs372952178	178	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1352242227 CA381243355	179	H>D		No	ClinGen gnomAD
rs763446574 CA6093117	181	A>V		No	ClinGen ExAC gnomAD
rs534196812 CA6093119	182	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA223930967 rs915323030	186	F>L		No	ClinGen TOPMed
rs202175767 CA6093122	189	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381243540 rs1239929856	189	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	194	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760925496 CA6093123	195	Y>D		No	ClinGen ExAC gnomAD
rs1005703720 CA223931074	198	V>L		No	ClinGen TOPMed
rs370154756 CA223931078	199	N>Y		No	ClinGen ESP TOPMed
CA381243851 rs1229821379	203	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1948630635 RCV001268701	206	S>missing		No	ClinVar dbSNP
rs1312376449 CA381243954	207	G>A		No	ClinGen gnomAD
rs776839253 CA6093143	208	G>V		No	ClinGen ExAC gnomAD
rs1029669932 CA223931089	209	S>C		No	ClinGen TOPMed
rs376996656 CA6093144	209	S>N		No	ClinGen ESP ExAC gnomAD
rs376996656 CA6093145	209	S>T		No	ClinGen ESP ExAC gnomAD
rs751431932 CA6093146	210	T>I		No	ClinGen ExAC gnomAD
CA223931111 rs767354316	213	G>S		No	ClinGen Ensembl
rs757262232 CA6093147	215	E>K		No	ClinGen ExAC gnomAD
CA6093149 COSM1171824 rs567507506	220	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA223931121 rs1052861439	221	V>A		No	ClinGen TOPMed
CA223931122 rs1052861439	221	V>G		No	ClinGen TOPMed
rs1402159436 CA381244215	221	V>L		No	ClinGen TOPMed
CA6093152 rs749017614	223	E>A		No	ClinGen ExAC gnomAD
rs779787878 CA6093151	223	E>K		No	ClinGen ExAC gnomAD
TCGA novel	225	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456786646 CA381244313	226	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6093154 rs779373969	228	R>C		No	ClinGen ExAC gnomAD
rs748491783 CA6093155 COSM295128	228	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA381244404 rs1401962103	231	P>H		No	ClinGen gnomAD
CA6093156 rs772581750	232	S>I		No	ClinGen ExAC TOPMed gnomAD
rs772581750 CA381244416	232	S>N		No	ClinGen ExAC TOPMed gnomAD
rs772581750 CA381244419	232	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1340209632 CA381244450	234	L>F		No	ClinGen gnomAD
CA381244467 rs1234136306	235	Y>H		No	ClinGen TOPMed gnomAD
CA6093157 rs773722405	238	I>V		No	ClinGen ExAC gnomAD
CA381244544 rs1323309959	239	L>F		No	ClinGen gnomAD
rs747021167 CA6093158	241	A>V		No	ClinGen ExAC TOPMed gnomAD
rs776818049 CA6093160	243	E>A		No	ClinGen ExAC TOPMed gnomAD
rs763767864 CA6093162	244	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6093161 rs759801167	244	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381244641 rs1487718740	245	G>V		No	ClinGen gnomAD
rs374219289 CA381244652	246	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6093163 rs374219289	246	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1416345453 CA381244688	249	G>D		No	ClinGen gnomAD
rs1422465486 CA381244723	251	S>P		No	ClinGen gnomAD
CA6093164 rs761539640	252	I>T		No	ClinGen ExAC TOPMed gnomAD
rs185612692 CA381244782	253	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1294384900 CA381245860	255	S>C		No	ClinGen TOPMed
CA6093187 rs773271122	256	S>R		No	ClinGen ExAC gnomAD
rs11554993 CA223931627	257	V>F		No	ClinGen ExAC TOPMed gnomAD
rs11554993 CA6093189	257	V>I		No	ClinGen ExAC TOPMed gnomAD
rs753348867 CA6093190	258	L>P		No	ClinGen ExAC gnomAD
rs764876772 CA6093192	260	M>I		No	ClinGen ExAC gnomAD
CA381245976 rs1565393701	260	M>T		No	ClinGen Ensembl
rs758980798 CA6093191	260	M>V		No	ClinGen ExAC gnomAD
rs192099450 CA6093193	262	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375516742 CA223931651	269	V>A		No	ClinGen ESP TOPMed gnomAD
rs1310011775 CA381246313	269	V>L		No	ClinGen gnomAD
CA381246409 rs1177282625	272	H>R		No	ClinGen gnomAD
CA6093197 CA6093196 rs369561177	278	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs757724932 CA6093198	279	A>T		No	ClinGen ExAC
rs1590851098 CA381246822	282	V>G		No	ClinGen Ensembl
rs1342064515 CA381246808	282	V>L		No	ClinGen gnomAD
rs1033093801 CA223931937 RCV000579217	285	R>*		No	ClinGen ClinVar Ensembl dbSNP
CA381246886 rs1277897868	285	R>Q		No	ClinGen gnomAD
rs865874620 CA223931940	287	Q>H		No	ClinGen gnomAD
rs1288396899 CA381246954	289	V>M		No	ClinGen gnomAD
CA381247012 rs1265601720	292	I>V		No	ClinGen gnomAD
CA381247032 rs956439042	293	R>L		No	ClinGen TOPMed gnomAD
CA223931950 rs956439042	293	R>Q		No	ClinGen TOPMed gnomAD
rs368843790 CA6093216	293	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs756205995 CA6093218	295	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6093217 rs750959356	295	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1590851154 CA381247086	296	N>T		No	ClinGen Ensembl
rs1411611765 CA381247099	297	P>T		No	ClinGen gnomAD
CA381247132 rs1404239957	298	W>*		No	ClinGen gnomAD
CA223931966 rs866769016	300	E>*		No	ClinGen Ensembl
CA381247204 rs1590851185	301	V>G		No	ClinGen Ensembl
CA381247231 rs1361911437	302	E>A		No	ClinGen TOPMed gnomAD
CA381247229 rs1361911437	302	E>G		No	ClinGen TOPMed gnomAD
rs1590851192 CA381247247	303	W>G		No	ClinGen Ensembl
CA6093221 COSM930346 rs377052700	304	T>M	Variant assessed as Somatic; 6.187e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs868013621 CA223931972	306	A>D		No	ClinGen Ensembl
CA381247345 rs1465183886	308	S>G		No	ClinGen TOPMed
rs926285316 CA223931993	309	D>N		No	ClinGen gnomAD
rs750921499 CA6093234	312	S>*		No	ClinGen ExAC
rs756621330 CA6093235	315	N>D		No	ClinGen ExAC gnomAD
rs766943429 CA6093236	316	N>S		No	ClinGen ExAC TOPMed gnomAD
rs575591830 CA6093238	317	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6093239 rs575591830	317	V>M		No	ClinGen ExAC TOPMed gnomAD
CA223932191 rs892195926	318	D>Y		No	ClinGen TOPMed gnomAD
CA6093240 rs748435072	319	P>S		No	ClinGen ExAC gnomAD
rs370989378 CA6093241	320	Y>H		No	ClinGen ESP ExAC
TCGA novel	321	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs537382083 CA6093244	322	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567949433 CA6093243	322	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1466517731 CA381247734	323	D>E		No	ClinGen gnomAD
CA381247751 rs1333942035	324	Q>H		No	ClinGen gnomAD
rs1330569266 CA381247776	326	R>Q		No	ClinGen TOPMed
rs1398824643 CA381247771	326	R>W		No	ClinGen TOPMed gnomAD
CA6093246 rs748730583	328	K>N		No	ClinGen ExAC gnomAD
CA6093245 rs550600375	328	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381247824 rs1332931541	329	M>I		No	ClinGen gnomAD
rs1274524055 CA381247865	332	G>R		No	ClinGen gnomAD
CA381248225 rs1428333006	335	W>C		No	ClinGen TOPMed gnomAD
TCGA novel	335	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166076360 CA381248232	336	M>L		No	ClinGen TOPMed gnomAD
CA6093268 rs778438052	337	S>L		No	ClinGen ExAC TOPMed gnomAD
rs747691483 CA6093269	338	F>L		No	ClinGen ExAC gnomAD
rs768652265 CA6093270	339	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1402023158 CA381248304	342	M>T		No	ClinGen TOPMed gnomAD
CA6093272 rs760940271	343	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6093271 rs772920091	343	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6093275 rs192790363	346	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777251073 CA6093274	346	T>P		No	ClinGen ExAC gnomAD
CA6093276 rs200456847	347	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6093277 rs372172705	347	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1170948824 CA381248394	350	I>S		No	ClinGen TOPMed
CA223932291 rs907269710	355	P>L		No	ClinGen Ensembl
CA6093281 rs755847929	356	D>A		No	ClinGen ExAC gnomAD
rs368265193 CA6093283	356	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6093280 rs751877160	356	D>N		No	ClinGen ExAC gnomAD
rs1182980501 CA381248767	357	A>T		No	ClinGen TOPMed
rs754873218 CA6093284	357	A>V		No	ClinGen ExAC gnomAD
CA223932316 rs200133179	361	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6093288 rs777274863	361	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6093287 rs200133179	361	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421651720 CA381248801	362	T>I		No	ClinGen gnomAD
rs1170840728 CA381248803	363	I>L		No	ClinGen TOPMed gnomAD
TCGA novel	363	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6093290 rs371969328	364	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs887910602 CA223932347	364	R>H		No	ClinGen TOPMed gnomAD
CA381248812 rs887910602	364	R>L		No	ClinGen TOPMed gnomAD
rs1327700684 CA381248817	365	K>R		No	ClinGen TOPMed gnomAD
CA6093291 rs777095480	368	T>A		No	ClinGen ExAC gnomAD
CA223932351 rs544101622	368	T>I		No	ClinGen gnomAD
CA381248841 rs544101622	368	T>S		No	ClinGen gnomAD
rs1314346757 CA381248849	370	L>V		No	ClinGen gnomAD
TCGA novel	371	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1006474497 CA223932353	371	Y>H		No	ClinGen TOPMed
rs770365183 CA6093293	372	E>K		No	ClinGen ExAC TOPMed gnomAD
rs776147604 CA6093294	373	G>S		No	ClinGen ExAC gnomAD
CA6093295 rs762939690	374	T>A		No	ClinGen ExAC TOPMed gnomAD
CA223932361 rs912363644	374	T>N		No	ClinGen TOPMed gnomAD
CA6093296 rs764293428	376	R>Q		No	ClinGen ExAC gnomAD
rs1015587537 CA223932365	376	R>W		No	ClinGen TOPMed gnomAD
rs563834232 CA381248890	377	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6093299 rs563834232	377	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA223932378 rs563834232	377	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs369163523 CA6093298 COSM930347	377	R>W	endometrium Variant assessed as Somatic; 4.996e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6093300 rs753584898	380	T>I		No	ClinGen ExAC gnomAD
CA381248913 rs1381907599	381	A>G		No	ClinGen TOPMed gnomAD
CA6093302 rs765152230	381	A>T		No	ClinGen ExAC
CA381248914 rs1381907599	381	A>V		No	ClinGen TOPMed gnomAD
CA381248924 rs972356790	383	G>A		No	ClinGen gnomAD
rs921163977 CA223932392	383	G>S		No	ClinGen TOPMed gnomAD
CA223932395 rs972356790	383	G>V		No	ClinGen gnomAD
rs936378193 CA223932401	384	C>G		No	ClinGen TOPMed
CA6093307 rs746531790	384	C>S		No	ClinGen ExAC gnomAD
CA223932421 COSM930348 rs985584291	385	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1391933314 CA381249780	391	F>L		No	ClinGen TOPMed
CA381249804 rs1320484454	392	W>S		No	ClinGen gnomAD
COSM1188299 CA6093327 rs780990234	393	V>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6093328 rs745574804	395	P>A		No	ClinGen ExAC gnomAD
rs1322394456 CA381249831	395	P>R		No	ClinGen TOPMed gnomAD
rs756526212 CA6093330	398	K>*		No	ClinGen ExAC gnomAD
rs756526212 CA6093331	398	K>Q		No	ClinGen ExAC gnomAD
rs1391341844 CA381249883	400	R>Q		No	ClinGen TOPMed gnomAD
rs1194682824 CA381249882	400	R>W		No	ClinGen gnomAD
rs769161725 CA6093334	404	T>K		No	ClinGen ExAC gnomAD
rs769161725 COSM194187 CA6093333	404	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs890953497 CA223940590	406	D>A		No	ClinGen Ensembl
rs748162203 CA6093335	406	D>E		No	ClinGen ExAC gnomAD
rs544100208 CA6093337	407	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs544100208 CA6093336	407	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs564169441 CA223940596	408	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1040007086 CA223940606	409	D>E		No	ClinGen TOPMed
rs771169260 CA6093339	412	D>N		No	ClinGen ExAC gnomAD
rs775306373 CA6093340	413	R>C		No	ClinGen ExAC TOPMed gnomAD
CA381250040 rs775306373	413	R>S		No	ClinGen ExAC TOPMed gnomAD
rs764022910 CA6093342	414	E>A		No	ClinGen ExAC gnomAD
rs1394084918 CA381250051	414	E>Q		No	ClinGen TOPMed
rs780574909 CA6093343	415	S>A		No	ClinGen ExAC TOPMed gnomAD
CA6093344 rs761395205	416	G>A		No	ClinGen ExAC gnomAD
rs1380440818 CA381250091	417	C>G		No	ClinGen gnomAD
rs767186479 CA6093345	418	S>R		No	ClinGen ExAC TOPMed gnomAD
rs750070185 CA6093346	419	F>L		No	ClinGen ExAC gnomAD
rs1288482998 CA381250157	421	L>P		No	ClinGen gnomAD
CA6093349 rs754176211	422	A>V		No	ClinGen ExAC gnomAD
TCGA novel	423	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6093351 rs779459026	424	M>T		No	ClinGen ExAC gnomAD
CA6093352 rs748700097	425	Q>L		No	ClinGen ExAC gnomAD
CA6093353 rs748700097	425	Q>P		No	ClinGen ExAC gnomAD
CA381250240 rs1590863706	427	H>P		No	ClinGen Ensembl
rs1189898477 CA381250255	428	R>C		No	ClinGen TOPMed
CA381250257 rs1423509575	428	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777787068 CA6093354	429	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374792537 CA6093355	430	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183409272 CA381250279	430	R>H		No	ClinGen TOPMed
rs533151901 CA6093356	431	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA6093359 rs10895991	433	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6093358 VAR_021086 rs10895991	433	R>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA381250315 rs370474989	435	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6093360 rs370474989	435	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450765297 CA381250316	435	G>V		No	ClinGen gnomAD
CA381250320 rs1313604654	436	R>C		No	ClinGen gnomAD
rs1382095822 CA381250325 COSM690047	436	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs767595116 CA6093362	437	D>E		No	ClinGen ExAC gnomAD
rs1311565818 CA381250334	437	D>G		No	ClinGen TOPMed gnomAD
rs761883462 CA6093361	437	D>Y		No	ClinGen ExAC gnomAD
CA381250345 rs749907065	438	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	438	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749907065 CA6093363	438	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1404790673 CA381250397	441	I>T		No	ClinGen gnomAD
CA381250392 rs1287284305	441	I>V		No	ClinGen TOPMed
rs932330665 CA223940646	443	F>L		No	ClinGen TOPMed gnomAD
CA381250432 rs1241266066	444	A>T		No	ClinGen gnomAD
rs1443477591 CA381250441	444	A>V		No	ClinGen gnomAD
rs548629918 CA6093367	445	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6093368 rs779182994	446	Y>H		No	ClinGen ExAC gnomAD
rs758850643 CA6093370	447	E>K		No	ClinGen ExAC TOPMed gnomAD
COSM1298406 rs758850643 CA381250462	447	E>Q	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	448	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757339695 CA6093394	448	V>I		No	ClinGen ExAC gnomAD
CA6093395 rs368921672	450	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6093397 rs756243067	451	E>D		No	ClinGen ExAC gnomAD
rs1253057302 CA381250985	451	E>K		No	ClinGen gnomAD
CA6093412 rs764490649	452	L>P		No	ClinGen ExAC gnomAD
CA6093411 rs764490649	452	L>R		No	ClinGen ExAC gnomAD
rs992133523 CA223941185	454	G>A		No	ClinGen Ensembl
rs1188887606 CA381251058	454	G>S		No	ClinGen gnomAD
rs376645029 CA6093414	456	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409814310 CA381251087	457	A>T		No	ClinGen TOPMed
rs564548073 CA6093417	458	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381251098 rs564548073 CA6093418	458	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381251113 rs1411135000	459	H>P		No	ClinGen TOPMed
CA381251109 rs1243018508	459	H>Y		No	ClinGen Ensembl
TCGA novel	461	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6093419 rs758232757	462	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201349372 CA6093420	462	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223941207 rs201349372	462	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381251180 rs1389264823	465	F>Y		No	ClinGen gnomAD
CA6093421 rs746839154	467	A>D		No	ClinGen ExAC gnomAD
rs772996730 CA223941210	467	A>P		No	ClinGen gnomAD
rs772996730 CA381251196	467	A>T		No	ClinGen gnomAD
CA6093423 rs781192477	469	A>P		No	ClinGen ExAC TOPMed gnomAD
rs781192477 CA381251216	469	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM930349 CA381251224 rs1217528784	469	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs746787494 CA6093427	471	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775100954 CA6093426	471	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6093428 rs61736658	472	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6093430 rs762252249 COSM429591	473	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs201136905 CA6093431	473	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6093432 rs201136905	473	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6093433 rs760826517	474	S>A		No	ClinGen ExAC gnomAD
rs766618916 COSM1188300 CA6093434	474	S>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1452864903 CA381251271	475	E>Q		No	ClinGen gnomAD
CA381251282 rs1337311208	476	Q>K		No	ClinGen gnomAD
CA381251310 rs779288043	477	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6093438 rs751243573	481	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381251374 rs1225079709	482	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6093439 rs757141535	483	V>A		No	ClinGen ExAC gnomAD
rs1443785039 CA381251421	484	S>C		No	ClinGen TOPMed
rs972175626 CA223941249	485	T>A		No	ClinGen TOPMed gnomAD
CA381251431 rs972175626	485	T>P		No	ClinGen TOPMed gnomAD
CA6093440 rs780976578	486	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6093441 rs745866452	486	R>H		No	ClinGen ExAC TOPMed gnomAD
CA223941256 rs745866452	486	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6093443 rs769261600	488	R>C		No	ClinGen ExAC TOPMed gnomAD
CA223941265 rs376981701	488	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA223941267 rs376981701	488	R>L		No	ClinGen ESP TOPMed gnomAD
rs1481688460 CA381251502	490	P>L		No	ClinGen gnomAD
rs779500680 CA6093444	491	P>A		No	ClinGen ExAC gnomAD
rs17883283 CA6093445 VAR_021087	492	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6093446 rs768241194	493	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1431193955 CA381251592	494	Y>*		No	ClinGen gnomAD
CA381251642 rs1175663649	498	P>L		No	ClinGen TOPMed gnomAD
rs895525026 CA223941288	502	E>K		No	ClinGen TOPMed
CA381251818 rs1296085581	505	K>E		No	ClinGen TOPMed gnomAD
rs1270112197 CA381251821	505	K>M		No	ClinGen TOPMed gnomAD
rs1270112197 CA381251820	505	K>R		No	ClinGen TOPMed gnomAD
rs772547369 CA6093451	506	E>*		No	ClinGen ExAC gnomAD
CA6093450 rs772547369	506	E>K		No	ClinGen ExAC gnomAD
CA6093453 rs529524929	508	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6093455 rs759689689	510	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6093456 rs765371449	511	L>P		No	ClinGen ExAC gnomAD
CA6093457 RCV001092066 rs753019478	512	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs756980532 CA6093458	512	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6093459 rs372785668	513	F>L		No	ClinGen ESP ExAC gnomAD
rs1201905381 CA381252124	518	S>G		No	ClinGen gnomAD
CA381252387 rs1476322417	526	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1184741447 CA381252405	526	D>V		No	ClinGen gnomAD
rs1294949906 CA381252509	530	A>T		No	ClinGen TOPMed
CA381252528 rs1418139554	530	A>V		No	ClinGen gnomAD
rs950677148 CA223941346	531	N>K		No	ClinGen gnomAD
rs150244086 CA6093470 RCV000911236	533	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6093473 CA223941357 rs759673293	534	D>E		No	ClinGen ExAC TOPMed
rs372462125 CA381252591	534	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs372462125 CA6093472	534	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA381252630 rs1411976858	535	E>K		No	ClinGen gnomAD
rs777253157 CA6093490	539	S>A		No	ClinGen ExAC gnomAD
CA381253214 rs1425054148	541	E>K		No	ClinGen TOPMed
rs1182062098 CA381253254	542	E>A		No	ClinGen gnomAD
CA6093491 rs746417560	543	I>T		No	ClinGen ExAC TOPMed gnomAD
CA381253292 rs770233534	544	D>E		No	ClinGen ExAC TOPMed gnomAD
CA381253294 rs1158810780	545	E>K		No	ClinGen TOPMed gnomAD
rs1158810780 CA381253295	545	E>Q		No	ClinGen TOPMed gnomAD
rs17855397 CA223941768	548	K>N		No	ClinGen Ensembl
CA223941771 rs926483224	549	A>V		No	ClinGen TOPMed
rs1040182170 CA223941775	550	L>F		No	ClinGen gnomAD
rs1287337350 CA381253386	550	L>P		No	ClinGen Ensembl
CA381253380 rs1040182170	550	L>V		No	ClinGen gnomAD
CA381253428 rs1333793992	552	R>K		No	ClinGen TOPMed
CA381253447 rs1405411542	553	Q>P		No	ClinGen gnomAD
rs1392104479 CA381253496	555	A>V		No	ClinGen TOPMed gnomAD
CA381253500 rs1330983977	556	G>R		No	ClinGen gnomAD
rs534023516 CA6093507	558	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381253660 rs1384146192	559	M>I		No	ClinGen TOPMed gnomAD
rs746239609 CA6093508	559	M>V		No	ClinGen ExAC gnomAD
CA381253685 rs1228089585	561	I>L		No	ClinGen gnomAD
rs1271389021 CA381253706	561	I>T		No	ClinGen gnomAD
CA381253731 rs1253469265	562	S>I		No	ClinGen TOPMed
rs1490739986 CA381253757	563	V>G		No	ClinGen gnomAD
rs367715816 CA6093511	563	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220647630 CA381253777	564	K>T		No	ClinGen gnomAD
rs542565372 CA6093514	567	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6093513 rs200944311	567	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1590866649 CA381253867	569	I>V		No	ClinGen Ensembl
CA381253895 rs1590866658	571	N>D		No	ClinGen Ensembl
rs772315911 CA6093515	571	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6093516 rs776366180	572	R>T		No	ClinGen ExAC TOPMed gnomAD
CA223941826 rs770808588	573	I>F		No	ClinGen Ensembl
CA381253967 rs1367606270	574	I>F		No	ClinGen gnomAD
CA381253973 rs1422986572	574	I>T		No	ClinGen gnomAD
CA6093518 rs759250961	575	S>R		No	ClinGen ExAC TOPMed gnomAD
CA223941830 rs377272789	577	H>N		No	ClinGen ESP TOPMed gnomAD
CA381254029 rs377272789	577	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1409526863 CA381254742	578	K>E		No	ClinGen gnomAD
CA381254745 rs1448003642	578	K>I		No	ClinGen TOPMed
CA381254751 rs1177131589	579	D>A		No	ClinGen gnomAD
rs775464231 CA6093539	579	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6093538 rs769524015	579	D>Y		No	ClinGen ExAC gnomAD
CA6093540 rs186133302	581	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223942105 rs866758793	581	R>W		No	ClinGen TOPMed gnomAD
rs1590867437 CA381254789	585	F>L		No	ClinGen Ensembl
rs531407436 CA223942106	586	S>G		No	ClinGen Ensembl
TCGA novel	586	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369530855 CA381254794	586	S>T		No	ClinGen TOPMed
CA6093541 rs369442678	588	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369442678 CA6093542	588	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6093543 rs761412242	589	S>L		No	ClinGen ExAC TOPMed gnomAD
CA381254817 rs1350295024	590	C>Y		No	ClinGen gnomAD
COSM1355905 CA6093545 rs750102134	591	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM930351 CA6093546 rs190935218	591	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs949425666 CA223942124	592	S>G		No	ClinGen TOPMed gnomAD
CA381254826 rs949425666	592	S>R		No	ClinGen TOPMed gnomAD
rs148743672 CA6093547 RCV000897901	594	V>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148743672 CA381254846	594	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1315147313 CA381254866	597	M>T		No	ClinGen TOPMed
rs191148065 CA6093562	599	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368480943 CA6093563	599	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368480943 CA6093564	599	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs191148065 CA223942290	599	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754097308 CA6093565	600	D>E		No	ClinGen ExAC TOPMed gnomAD
rs370499598 CA6093568	602	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1021170940 CA223942317	606	G>V		No	ClinGen Ensembl
rs1411467204 CA381254942	608	V>L		No	ClinGen TOPMed
COSM1579554 rs200876514 CA6093570	610	F>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1364164873 CA381254972	612	I>V		No	ClinGen gnomAD
CA6093571 rs777672981	615	N>I		No	ClinGen ExAC gnomAD
rs777672981 CA6093572	615	N>S		No	ClinGen ExAC gnomAD
CA6093573 rs139570056	616	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545449346 CA6093574	616	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA381255004 rs1370430001	617	I>N		No	ClinGen TOPMed
CA6093576 rs772985471	618	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6093575 rs367610255	618	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6093597 rs747981476	623	I>V		No	ClinGen ExAC gnomAD
CA6093599 rs537493793	625	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771850204 CA6093598	625	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746482864 CA6093600	626	K>N		No	ClinGen ExAC gnomAD
rs763575445 CA223942411	628	D>G		No	ClinGen Ensembl
CA381255107 rs1484732670	631	K>R		No	ClinGen gnomAD
CA6093601 rs770520025	632	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759145458 CA6093603	634	S>N		No	ClinGen ExAC TOPMed gnomAD
CA381255132 rs1419129341	635	M>T		No	ClinGen TOPMed
rs376453211 CA6093604	637	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs763379888 CA6093606	639	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763379888 CA381255158	639	E>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000614158 CA381255169 rs752166957	640	M>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs752166957 CA6093608	640	M>T		No	ClinGen ExAC TOPMed gnomAD
CA223942425 rs973792919	641	R>P		No	ClinGen TOPMed gnomAD
CA381255174 rs973792919	641	R>Q		No	ClinGen TOPMed gnomAD
CA6093609 rs761777058	641	R>W		No	ClinGen ExAC TOPMed gnomAD
rs767677371 CA6093610	644	I>T		No	ClinGen ExAC gnomAD
CA6093611 rs539036617	646	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1590868171 CA381255215	647	A>V		No	ClinGen Ensembl
CA381255232 rs867157281	648	G>D		No	ClinGen gnomAD
rs867157281 CA223942521	648	G>V		No	ClinGen gnomAD
rs1306155686 CA381255251	651	L>V		No	ClinGen TOPMed gnomAD
CA6093639 rs755687534	652	N>S		No	ClinGen ExAC gnomAD
rs779650377 CA6093640	653	K>M		No	ClinGen ExAC TOPMed gnomAD
rs779650377 CA223942525	653	K>R		No	ClinGen ExAC TOPMed gnomAD
CA381255274 rs1299195005	654	K>M		No	ClinGen gnomAD
rs749018143 CA6093641	654	K>N		No	ClinGen ExAC gnomAD
CA6093642 rs768214002	655	L>P		No	ClinGen ExAC gnomAD
CA6093643 rs774735802	656	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs1446136380 CA381255296	658	L>V		No	ClinGen TOPMed
rs776599915 CA6093649	661	T>N		No	ClinGen ExAC gnomAD
CA381255315 rs1590868451	661	T>P		No	ClinGen Ensembl
CA6093651 rs759767072	662	R>C		No	ClinGen ExAC TOPMed gnomAD
CA381255321 rs1368821125	662	R>H		No	ClinGen gnomAD
rs759767072 CA6093650	662	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6093652 rs751312619	663	Y>S		No	ClinGen ExAC gnomAD
CA6093653 rs375107477	664	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1161250925 CA381255333	664	S>P		No	ClinGen gnomAD
CA381255374 rs748778011	667	D>E		No	ClinGen ExAC gnomAD
CA6093657 rs561601246	667	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561601246 CA6093656	667	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6093659 rs754590542	669	A>E		No	ClinGen ExAC gnomAD
rs754590542 CA381255393	669	A>V		No	ClinGen ExAC gnomAD
CA381255399 rs1265250021	670	V>A		No	ClinGen gnomAD
CA6093662 rs772628339	670	V>F		No	ClinGen ExAC gnomAD
rs1265250021 CA381255400	670	V>G		No	ClinGen gnomAD
CA6093664 rs747474289	671	D>A		No	ClinGen ExAC
CA223942579 rs530741740	671	D>E		No	ClinGen 1000Genomes
rs778406844 CA6093663	671	D>N		No	ClinGen ExAC gnomAD
rs771599956 CA6093665	674	N>S		No	ClinGen ExAC TOPMed gnomAD
VAR_021088 RCV000901254 rs17884773 CA6093666	676	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374329721 CA6093667	680	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs367867915 CA6093669	681	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs761565228 CA6093670	683	E>K		No	ClinGen ExAC gnomAD
TCGA novel	685	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6093671 rs767349185	685	M>T		No	ClinGen ExAC gnomAD
rs750239516 CA6093672	686	F>L		No	ClinGen ExAC gnomAD
rs1457675257 CA381255582	686	F>S		No	ClinGen gnomAD
rs1358242432 CA381255590	687	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6093695 rs753782333	691	T>S		No	ClinGen ExAC gnomAD
CA381255728 rs1350358894	696	L>M		No	ClinGen TOPMed gnomAD
rs1371055689 CA381255738	697	D>Y		No	ClinGen gnomAD
rs764606906 CA6093697	698	G>A		No	ClinGen ExAC gnomAD
CA6093698 rs752290465	699	V>A		No	ClinGen ExAC gnomAD
TCGA novel	699	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758060789 CA6093699	700	V>L		No	ClinGen ExAC gnomAD
CA381255791 rs1444263866	701	T>I		No	ClinGen TOPMed
CA381255794 rs1484166776	702	F>L		No	ClinGen gnomAD
rs777584157 CA6093700	703	D>G		No	ClinGen ExAC TOPMed gnomAD
CA223942797 rs867424573	703	D>N		No	ClinGen Ensembl
rs751961488 CA6093701	705	F>L		No	ClinGen ExAC TOPMed gnomAD
rs751961488 CA223942807	705	F>V		No	ClinGen ExAC TOPMed gnomAD
rs756509200 CA6093723	707	W>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	709	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568764806 CA6093725	711	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1203935176 CA381256337	714	A>V		No	ClinGen TOPMed

1 associated diseases with P07384

[MIM: 616907]: Spastic paraplegia 76, autosomal recessive (SPG76)

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:27153400}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:27153400}. Note=The disease is caused by variants affecting the gene represented in this entry.

8 regional properties for P07384

Type	Name	Position	InterPro Accession
active_site	Cysteine peptidase, cysteine active site	109 - 120	IPR000169
domain	Peptidase C2, calpain, catalytic domain	37 - 362	IPR001300
domain	EF-hand domain	557 - 614	IPR002048-1
domain	EF-hand domain	615 - 650	IPR002048-2
binding_site	EF-Hand 1, calcium-binding site	628 - 640	IPR018247
domain	Peptidase C2, calpain, large subunit, domain III	371 - 514	IPR022682
domain	Peptidase C2, calpain, domain III	365 - 522	IPR022683
domain	Calpain subdomain III	364 - 524	IPR033883

Functions

		Description
EC Number	3.4.22.52	Cysteine endopeptidases
Subcellular Localization	Cytoplasm Cell membrane	Translocates to the plasma membrane upon Ca(2+) binding In granular keratinocytes and in lower corneocytes, colocalizes with FLG and FLG2 (PubMed:21531719)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
cornified envelope	A type of plasma membrane that has been modified through addition of distinct intracellular and extracellular components, including ceramide, found in cornifying epithelial cells (corneocytes).
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	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. This term covers the host cell environment outside an intracellular parasite.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
calcium-dependent cysteine-type endopeptidase activity	Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain by a mechanism using a cysteine residue at the enzyme active center, and requiring the presence of calcium.
peptidase activity	Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid.

8 GO annotations of biological process

Name	Definition
mammary gland involution	The tissue remodeling that removes differentiated mammary epithelia during weaning.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
receptor catabolic process	The chemical reactions and pathways resulting in the breakdown of a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
regulation of catalytic activity	Any process that modulates the activity of an enzyme.
regulation of macroautophagy	Any process that modulates the frequency, rate or extent of macroautophagy.
regulation of NMDA receptor activity	Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity.
self proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their own peptide bonds.

19 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q27971	CAPN2	Calpain-2 catalytic subunit	Bos taurus (Bovine)	PR
Q27970	CAPN1	Calpain-1 catalytic subunit	Bos taurus (Bovine)	PR
P00789		Calpain-1 catalytic subunit	Gallus gallus (Chicken)	PR
Q9VXH6	CalpC	Calpain-C	Drosophila melanogaster (Fruit fly)	PR
O14815	CAPN9	Calpain-9	Homo sapiens (Human)	PR
Q6MZZ7	CAPN13	Calpain-13	Homo sapiens (Human)	PR
Q9HC96	CAPN10	Calpain-10	Homo sapiens (Human)	PR
Q9ESK3	Capn10	Calpain-10	Mus musculus (Mouse)	PR
G3UZ78	Adgb	Androglobin	Mus musculus (Mouse)	PR
O08529	Capn2	Calpain-2 catalytic subunit	Mus musculus (Mouse)	PR
Q9D805	Capn9	Calpain-9	Mus musculus (Mouse)	PR
Q3UW68	Capn13	Calpain-13	Mus musculus (Mouse)	PR
O35350	Capn1	Calpain-1 catalytic subunit	Mus musculus (Mouse)	PR
P43367	CAPN2	Calpain-2 catalytic subunit	Sus scrofa (Pig)	PR
P35750	CAPN1	Calpain-1 catalytic subunit	Sus scrofa (Pig)	PR
O35920	Capn9	Calpain-9	Rattus norvegicus (Rat)	PR
Q5BK10	Capn13	Calpain-13	Rattus norvegicus (Rat)	PR
Q07009	Capn2	Calpain-2 catalytic subunit	Rattus norvegicus (Rat)	PR
P97571	Capn1	Calpain-1 catalytic subunit	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSEEIITPVY	CTGVSAQVQK	QRARELGLGR	HENAIKYLGQ	DYEQLRVRCL	QSGTLFRDEA
70	80	90	100	110	120
FPPVPQSLGY	KDLGPNSSKT	YGIKWKRPTE	LLSNPQFIVD	GATRTDICQG	ALGDCWLLAA
130	140	150	160	170	180
IASLTLNDTL	LHRVVPHGQS	FQNGYAGIFH	FQLWQFGEWV	DVVVDDLLPI	KDGKLVFVHS
190	200	210	220	230	240
AEGNEFWSAL	LEKAYAKVNG	SYEALSGGST	SEGFEDFTGG	VTEWYELRKA	PSDLYQIILK
250	260	270	280	290	300
ALERGSLLGC	SIDISSVLDM	EAITFKKLVK	GHAYSVTGAK	QVNYRGQVVS	LIRMRNPWGE
310	320	330	340	350	360
VEWTGAWSDS	SSEWNNVDPY	ERDQLRVKME	DGEFWMSFRD	FMREFTRLEI	CNLTPDALKS
370	380	390	400	410	420
RTIRKWNTTL	YEGTWRRGST	AGGCRNYPAT	FWVNPQFKIR	LDETDDPDDY	GDRESGCSFV
430	440	450	460	470	480
LALMQKHRRR	ERRFGRDMET	IGFAVYEVPP	ELVGQPAVHL	KRDFFLANAS	RARSEQFINL
490	500	510	520	530	540
REVSTRFRLP	PGEYVVVPST	FEPNKEGDFV	LRFFSEKSAG	TVELDDQIQA	NLPDEQVLSE
550	560	570	580	590	600
EEIDENFKAL	FRQLAGEDME	ISVKELRTIL	NRIISKHKDL	RTKGFSLESC	RSMVNLMDRD
610	620	630	640	650	660
GNGKLGLVEF	NILWNRIRNY	LSIFRKFDLD	KSGSMSAYEM	RMAIESAGFK	LNKKLYELII
670	680	690	700	710
TRYSEPDLAV	DFDNFVCCLV	RLETMFRFFK	TLDTDLDGVV	TFDLFKWLQL	TMFA