AiPD: Autoinhibited Protein Database

P57764

Gene name	GSDMD
Protein name	Gasdermin-D
Names	Gasdermin domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79792
EC number
Protein Class	GASDERMIN (PTHR16399)

Descriptions

Gasdermin-D (GSDMD) is a pore-forming protein causing membrane permeabilization and pyroptosis, and functions downstream of the inflammatory caspases. In LPS-stimulated cells, the N-terminal gasdermin domain is released from full-length Gsdmd by caspases-induced cleavage, and this N-terminal domain induces pyroptosis. The C-terminal gasdermin domain adopts an intramolecular complex with the N-terminal domain, which inhibits the activation of the N-terminal gasdermin domain.

Autoinhibitory domains (AIDs)

Target domain	1-272 (N-terminal gasdermin domain)
Relief mechanism	Cleavage
Assay	Mutagenesis experiment, Split protein assay, Structural analysis

AID

284-456 (C-terminal gasdermin domain)

Target domain

1-272 (N-terminal gasdermin domain)

Relief mechanism

Cleavage (Interdomain cleavage by inflammatory caspases)

Assay

Mutagenesis experiment, Split protein assay, Structural analysis

Accessory elements

No accessory elements

References

Shi J et al. (2015) "Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death", Nature, 526, 660-5

Ding J et al. (2016) "Pore-forming activity and structural autoinhibition of the gasdermin family", Nature, 535, 111-6

Kuang S et al. (2017) "Structure insight of GSDMD reveals the basis of GSDMD autoinhibition in cell pyroptosis", Proceedings of the National Academy of Sciences of the United States of America, 114, 10642-10647

Autoinhibited structure

Activated structure

8 structures for P57764

Entry ID	Method	Resolution	Chain	Position	Source
5NH1	X-ray	204 A	A	278-484	PDB
5WQT	X-ray	264 A	A/B	276-484	PDB
6AO4	X-ray	290 A	A	277-484	PDB
6KN0	X-ray	279 A	E/F	283-480	PDB
6N9O	X-ray	350 A	A/B/C/D	1-484	PDB
6VFE	EM	390 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X/Y/Z/a/b/c/d	1-241	PDB
7Z1X	X-ray	186 A	A/D	1-484	PDB
AF-P57764-F1	Predicted				AlphaFoldDB

898 variants for P57764

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs748335865	2	G>R		No	ExAC gnomAD
rs748335865 CA4911057	2	G>R		No	ClinGen ExAC gnomAD
CA187584188 rs920689772	2	G>V		No	ClinGen TOPMed
rs920689772	2	G>V		No	TOPMed
rs1586994413	3	S>A		No	Ensembl
rs1586994413 CA372452927	3	S>A		No	ClinGen Ensembl
rs770774804 CA4911058	3	S>L		No	ClinGen ExAC TOPMed gnomAD
rs770774804	3	S>L		No	ExAC TOPMed gnomAD
rs1405530233 CA372452932	4	A>T		No	ClinGen gnomAD
rs1405530233	4	A>T		No	gnomAD
rs375764221	7	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs375764221 CA4911063	7	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4911062 rs375764221	7	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375764221	7	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4911061 rs138605740 COSM161429	7	R>W	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs138605740	7	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs900236163	9	V>F		No	TOPMed gnomAD
CA187584201 rs900236163	9	V>F		No	ClinGen TOPMed gnomAD
rs768251748	10	R>G		No	ExAC TOPMed gnomAD
CA4911066 rs768251748	10	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767225183 CA4911067	10	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767225183	10	R>Q		No	ExAC TOPMed gnomAD
CA4911064 rs768251748	10	R>W		No	ClinGen ExAC TOPMed gnomAD
rs768251748	10	R>W		No	ExAC TOPMed gnomAD
CA372452981 rs1278086632	13	V>I		No	ClinGen TOPMed gnomAD
rs1278086632	13	V>I		No	TOPMed gnomAD
rs1387000875 CA372452999	15	E>G		No	ClinGen gnomAD
rs1387000875	15	E>G		No	gnomAD
rs1304644003	16	L>V		No	TOPMed gnomAD
rs1304644003 CA372453004	16	L>V		No	ClinGen TOPMed gnomAD
rs1370209022	19	G>V		No	gnomAD
CA372453029 rs1370209022	19	G>V		No	ClinGen gnomAD
CA4911071 rs766819611	22	F>C		No	ClinGen ExAC gnomAD
rs766819611	22	F>C		No	ExAC gnomAD
rs371966789	24	P>S		No	ESP TOPMed
CA187584209 rs371966789	24	P>S		No	ClinGen ESP TOPMed
rs1054080654	25	V>E		No	TOPMed
CA187584212 rs1054080654	25	V>E		No	ClinGen TOPMed
rs1586994521 CA372453064	25	V>L		No	ClinGen Ensembl
rs1586994521	25	V>L		No	Ensembl
CA372453073 rs1201218070	26	T>I		No	ClinGen gnomAD
rs1201218070	26	T>I		No	gnomAD
rs145248129 CA187584215	28	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs145248129	28	L>M		No	ESP ExAC TOPMed gnomAD
rs147626267 CA4911073	28	L>P		No	ClinGen ESP ExAC gnomAD
rs147626267	28	L>P		No	ESP ExAC gnomAD
CA372453091 rs1191602961	29	Q>H		No	ClinGen gnomAD
rs1191602961	29	Q>H		No	gnomAD
rs1189128228 CA372453104	31	S>C		No	ClinGen TOPMed
rs1189128228	31	S>C		No	TOPMed
CA4911074 rs142275114	36	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs142275114	36	P>H		No	ESP ExAC TOPMed gnomAD
rs142275114 CA4911075	36	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142275114	36	P>L		No	ESP ExAC TOPMed gnomAD
rs1563904731 CA372453153	38	C>*		No	ClinGen Ensembl
rs1563904731	38	C>*		No	Ensembl
CA4911077 rs369363029	40	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369363029	40	V>L		No	ESP ExAC TOPMed gnomAD
rs369363029	40	V>M		No	ESP ExAC TOPMed gnomAD
CA4911078 rs369363029	40	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs886064904	41	V>A		No	Ensembl
rs886064904 CA187584226	41	V>A		No	ClinGen Ensembl
CA372453191 rs1250845211	44	P>L		No	ClinGen TOPMed gnomAD
rs1250845211	44	P>L		No	TOPMed gnomAD
rs1352159084 CA372453186	44	P>T		No	ClinGen gnomAD
rs1352159084	44	P>T		No	gnomAD
rs755887112 CA4911079	46	S>N		No	ClinGen ExAC gnomAD
rs755887112	46	S>N		No	ExAC gnomAD
rs779897607 CA4911080	48	W>*		No	ClinGen ExAC gnomAD
rs779897607	48	W>*		No	ExAC gnomAD
rs1274691515	48	W>R		No	gnomAD
CA372453233 rs1274691515	48	W>R		No	ClinGen gnomAD
CA372453324 rs1357213288	52	P>R		No	ClinGen gnomAD
rs1357213288	52	P>R		No	gnomAD
rs373227688 CA4911082	52	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373227688	52	P>S		No	ESP ExAC TOPMed gnomAD
rs373227688	52	P>T		No	ESP ExAC TOPMed gnomAD
rs373227688 CA372453315	52	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs577475751	53	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs577475751 CA4911083	53	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577475751	53	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs577475751 CA4911084	53	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143201688	53	R>H		No	ESP ExAC TOPMed gnomAD
rs143201688 CA4911085	53	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4911087 rs544896045	54	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs544896045	54	Y>*		No	1000Genomes ExAC gnomAD
rs772874441	54	Y>C		No	ExAC gnomAD
rs772874441 CA4911086	54	Y>C		No	ClinGen ExAC gnomAD
CA372453340 rs1270765318	54	Y>H		No	ClinGen gnomAD
rs1270765318	54	Y>H		No	gnomAD
rs1403055983	59	L>P		No	TOPMed
CA372453472 rs1403055983	59	L>P		No	ClinGen TOPMed
rs1475107029	62	K>N		No	TOPMed gnomAD
CA372453541 rs1475107029	62	K>N		No	ClinGen TOPMed gnomAD
rs765673987	64	I>N		No	ExAC gnomAD
CA4911092 rs765673987	64	I>N		No	ClinGen ExAC gnomAD
CA187584249 rs1023786472	66	E>Q		No	ClinGen TOPMed
rs1023786472	66	E>Q		No	TOPMed
rs758431028	67	P>L		No	ExAC TOPMed gnomAD
CA4911094 rs758431028	67	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758431028	67	P>R		No	ExAC TOPMed gnomAD
CA372453665 rs758431028	67	P>R		No	ClinGen ExAC TOPMed gnomAD
CA4911099 rs369011186	70	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs369011186	70	A>T		No	ESP ExAC TOPMed gnomAD
CA4911100 rs754975330	70	A>V		No	ClinGen ExAC TOPMed gnomAD
rs754975330	70	A>V		No	ExAC TOPMed gnomAD
CA372453766 rs1267963319	72	P>S		No	ClinGen gnomAD
rs1267963319	72	P>S		No	gnomAD
CA4911127 rs138868380	74	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138868380	74	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1442153035 CA372453939	75	Q>R		No	ClinGen gnomAD
rs1442153035	75	Q>R		No	gnomAD
rs776045937	76	R>C		No	ExAC gnomAD
CA4911128 rs776045937	76	R>C		No	ClinGen ExAC gnomAD
rs537857942	76	R>H		No	1000Genomes ExAC TOPMed gnomAD
CA4911129 rs537857942	76	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1452539405	77	G>V		No	gnomAD
CA372453986 rs1452539405	77	G>V		No	ClinGen gnomAD
rs1403947850 CA372453994	78	R>K		No	ClinGen gnomAD
rs1403947850	78	R>K		No	gnomAD
rs1469823852	79	S>I		No	gnomAD
CA372454022 rs1469823852	79	S>I		No	ClinGen gnomAD
rs1380406996	81	H>P		No	gnomAD
CA372454057 rs1380406996	81	H>P		No	ClinGen gnomAD
rs768988388	84	D>N		No	ExAC TOPMed gnomAD
CA4911130 rs768988388	84	D>N		No	ClinGen ExAC TOPMed gnomAD
rs774494453	86	M>I		No	ExAC gnomAD
rs774494453 CA4911131	86	M>I		No	ClinGen ExAC gnomAD
rs1298454305 CA372454193	86	M>T		No	ClinGen TOPMed
rs1298454305	86	M>T		No	TOPMed
rs1341962217 CA372454186	86	M>V		No	ClinGen TOPMed
rs1341962217	86	M>V		No	TOPMed
rs1237112100	89	Q>K		No	gnomAD
CA372454264 rs1237112100	89	Q>K		No	ClinGen gnomAD
CA4911132 rs201322968	90	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201322968	90	I>V		No	1000Genomes ExAC TOPMed gnomAD
CA4911133 rs377663855	92	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377663855	92	G>S		No	ESP ExAC TOPMed gnomAD
CA372454509 rs1459474633	94	V>A		No	ClinGen gnomAD
rs1459474633	94	V>A		No	gnomAD
rs759446393	94	V>M		No	ExAC gnomAD
rs759446393 CA4911135	94	V>M		No	ClinGen ExAC gnomAD
CA4911137 rs142101478	97	A>P		No	ClinGen ESP ExAC gnomAD
rs142101478	97	A>P		No	ESP ExAC gnomAD
rs1417663916 CA372454577	98	A>T		No	ClinGen gnomAD
rs1417663916	98	A>T		No	gnomAD
rs751112084	101	Q>P		No	ExAC TOPMed gnomAD
rs751112084 CA4911140	101	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs751112084	101	Q>R		No	ExAC TOPMed gnomAD
rs751112084 CA372454669	101	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4911141 rs756672131	103	K>N		No	ClinGen ExAC TOPMed gnomAD
rs756672131	103	K>N		No	ExAC TOPMed gnomAD
rs376510158 CA372454777	104	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs376510158	104	I>M		No	ESP ExAC TOPMed gnomAD
rs770204219	105	A>T		No	ExAC TOPMed gnomAD
CA4911144 rs770204219	105	A>T		No	ClinGen ExAC TOPMed gnomAD
rs749549683	107	G>R		No	ExAC TOPMed gnomAD
rs749549683 CA4911146	107	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748312977 CA4911149	108	A>T		No	ClinGen ExAC gnomAD
rs748312977	108	A>T		No	ExAC gnomAD
rs200806004 CA372454883	109	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200806004	109	A>P		No	1000Genomes ExAC TOPMed gnomAD
CA4911150 rs200806004	109	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200806004	109	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs553636785	109	A>V		No	1000Genomes ExAC TOPMed gnomAD
CA4911151 rs553636785	109	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760963244	110	V>A		No	ExAC gnomAD
rs760963244 CA4911152	110	V>A		No	ClinGen ExAC gnomAD
rs766647547	112	D>E		No	ExAC gnomAD
rs766647547 CA4911154	112	D>E		No	ClinGen ExAC gnomAD
CA372454954 rs1228286870	112	D>N		No	ClinGen gnomAD
rs1228286870	112	D>N		No	gnomAD
CA372455004 rs1324952371	113	S>G		No	ClinGen TOPMed
rs1324952371	113	S>G		No	TOPMed
rs572223425 CA4911156	115	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs572223425	115	S>G		No	1000Genomes ExAC gnomAD
rs1056541272	116	T>I		No	Ensembl
CA187584409 rs1056541272	116	T>I		No	ClinGen Ensembl
rs1490407606	118	M>I		No	gnomAD
rs1490407606 CA372455254	118	M>I		No	ClinGen gnomAD
rs1403571985	118	M>V		No	gnomAD
CA372455230 rs1403571985	118	M>V		No	ClinGen gnomAD
rs767002044 CA4911159	121	Y>*		No	ClinGen ExAC gnomAD
rs767002044	121	Y>*		No	ExAC gnomAD
CA4911158 rs756830484	121	Y>D		No	ClinGen ExAC gnomAD
rs756830484	121	Y>D		No	ExAC gnomAD
rs536030209	122	S>*		No	1000Genomes ExAC TOPMed gnomAD
rs536030209 CA372455368	122	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536030209	122	S>L		No	1000Genomes ExAC TOPMed gnomAD
CA4911160 rs536030209	122	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4911162 rs779643264	124	S>N		No	ClinGen ExAC gnomAD
rs779643264	124	S>N		No	ExAC gnomAD
rs779643264 CA372455396	124	S>T		No	ClinGen ExAC gnomAD
rs779643264	124	S>T		No	ExAC gnomAD
rs947708418	126	D>A		No	gnomAD
CA187584425 rs947708418	126	D>A		No	ClinGen gnomAD
CA372455443 rs1295061917	126	D>N		No	ClinGen gnomAD
rs1295061917	126	D>N		No	gnomAD
rs1466957556	129	T>S		No	TOPMed
rs1466957556 CA372455577	129	T>S		No	ClinGen TOPMed
rs1404537970 CA372455622	130	W>*		No	ClinGen TOPMed gnomAD
rs1404537970	130	W>*		No	TOPMed gnomAD
CA372455735 rs1382793207	133	L>P		No	ClinGen gnomAD
rs1382793207	133	L>P		No	gnomAD
CA372455725 rs1342636977	133	L>V		No	ClinGen gnomAD
rs1342636977	133	L>V		No	gnomAD
rs1294949589	134	L>I		No	gnomAD
CA372455739 rs1294949589	134	L>I		No	ClinGen gnomAD
rs1247699101 CA372455788	135	H>N		No	ClinGen gnomAD
rs1247699101	135	H>N		No	gnomAD
rs755279625	137	R>T		No	ExAC gnomAD
rs755279625 CA4911165	137	R>T		No	ClinGen ExAC gnomAD
rs1481910976	138	H>Y		No	gnomAD
rs1481910976 CA372412595	138	H>Y		No	ClinGen gnomAD
rs200207107	140	R>Q		No	1000Genomes ExAC TOPMed gnomAD
CA4911247 rs200207107	140	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548441163 CA187525859	140	R>W		No	ClinGen 1000Genomes gnomAD
rs548441163	140	R>W		No	1000Genomes gnomAD
CA4911248 rs749511813	141	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs749511813	141	Q>*		No	ExAC TOPMed gnomAD
rs758250312	143	E>A		No	ExAC gnomAD
CA4911249 rs758250312	143	E>A		No	ClinGen ExAC gnomAD
CA372412711 rs1179622366	143	E>K		No	ClinGen TOPMed gnomAD
rs1179622366	143	E>K		No	TOPMed gnomAD
rs1179622366	143	E>Q		No	TOPMed gnomAD
CA372412716 rs1179622366	143	E>Q		No	ClinGen TOPMed gnomAD
CA372412755 rs1448761563	144	H>Y		No	ClinGen TOPMed
rs1448761563	144	H>Y		No	TOPMed
rs1175102792	145	K>E		No	TOPMed gnomAD
CA372412784 rs1175102792	145	K>E		No	ClinGen TOPMed gnomAD
rs1375793609 CA372412825	146	V>I		No	ClinGen gnomAD
rs1375793609	146	V>I		No	gnomAD
rs1408193906	148	Q>*		No	gnomAD
CA372412876 rs1408193906	148	Q>*		No	ClinGen gnomAD
rs1305142537 CA372412932	150	L>M		No	ClinGen gnomAD
rs1305142537	150	L>M		No	gnomAD
rs1346407406	150	L>P		No	gnomAD
CA372412943 rs1346407406	150	L>P		No	ClinGen gnomAD
rs769315262	151	R>C		No	ExAC TOPMed gnomAD
rs769315262 CA4911255	151	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775348739 CA4911256	151	R>H		No	ClinGen ExAC gnomAD
rs775348739	151	R>H		No	ExAC gnomAD
CA4911258 rs763781279	153	R>C		No	ClinGen ExAC gnomAD
rs763781279	153	R>C		No	ExAC gnomAD
rs371540960 CA4911259 COSM1623702	153	R>H	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs371540960	153	R>H		No	ESP ExAC TOPMed gnomAD
rs142072236	154	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142072236 CA4911261	154	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1198058325	155	D>N		No	gnomAD
rs1198058325 CA372413002	155	D>N		No	ClinGen gnomAD
rs756218768	157	V>L		No	ExAC TOPMed gnomAD
rs756218768 CA4911264	157	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756218768	157	V>M		No	ExAC TOPMed gnomAD
CA4911263 rs756218768	157	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1037415840	158	Y>*		No	TOPMed gnomAD
CA187525944 rs1037415840	158	Y>*		No	ClinGen TOPMed gnomAD
rs1372459189	159	V>L		No	TOPMed gnomAD
CA372413084 rs1372459189	159	V>L		No	ClinGen TOPMed gnomAD
rs1372459189 CA372413087	159	V>L		No	ClinGen TOPMed gnomAD
rs1372459189	159	V>L		No	TOPMed gnomAD
rs1372459189 CA372413081	159	V>M		No	ClinGen TOPMed gnomAD
rs1372459189	159	V>M		No	TOPMed gnomAD
rs779063452	162	E>K		No	ExAC gnomAD
rs779063452 CA4911267	162	E>K		No	ClinGen ExAC gnomAD
rs757051311	165	Q>H		No	ExAC TOPMed gnomAD
CA187525987 rs757051311	165	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4911269 rs757051311	165	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs757051311	165	Q>H		No	ExAC TOPMed gnomAD
rs1343385452	166	T>A		No	TOPMed gnomAD
rs1343385452 CA372413225	166	T>A		No	ClinGen TOPMed gnomAD
CA372413242 rs1382879574	166	T>I		No	ClinGen gnomAD
rs1382879574	166	T>I		No	gnomAD
rs781027934 CA4911271	167	Q>*		No	ClinGen ExAC
rs781027934	167	Q>*		No	ExAC
CA372413337 rs1295433303	170	V>E		No	ClinGen gnomAD
rs1295433303	170	V>E		No	gnomAD
CA187525997 rs373975546	170	V>L		No	ClinGen ESP TOPMed
rs373975546	170	V>L		No	ESP TOPMed
rs373975546	170	V>M		No	ESP TOPMed
rs373975546 CA372413327	170	V>M		No	ClinGen ESP TOPMed
rs769246009	171	E>K		No	ExAC gnomAD
rs769246009 CA4911273	171	E>K		No	ClinGen ExAC gnomAD
CA4911274 rs145182854	173	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs145182854	173	T>M		No	ESP ExAC TOPMed gnomAD
CA4911275 rs145182854	173	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs145182854	173	T>R		No	ESP ExAC TOPMed gnomAD
CA4911278 rs762126454	174	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762126454	174	R>C		No	ExAC TOPMed gnomAD
rs1263128767	174	R>H		No	TOPMed gnomAD
rs1263128767 CA372413428	174	R>H		No	ClinGen TOPMed gnomAD
rs1270424384	177	K>E		No	TOPMed
CA372413457 rs1270424384	177	K>E		No	ClinGen TOPMed
rs376248035 CA4911279	178	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376248035	178	R>Q		No	ExAC TOPMed gnomAD
rs1486536233 CA372413471	178	R>W		No	ClinGen TOPMed gnomAD
rs1486536233	178	R>W		No	TOPMed gnomAD
rs982409580	179	E>K		No	TOPMed
rs982409580 CA187526031	179	E>K		No	ClinGen TOPMed
rs773652242	180	G>A		No	ExAC gnomAD
CA4911280 rs773652242	180	G>A		No	ClinGen ExAC gnomAD
rs761263094	181	S>L		No	ExAC TOPMed gnomAD
CA4911281 rs761263094	181	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1162897080 CA372413519	183	R>Q		No	ClinGen gnomAD
rs1162897080	183	R>Q		No	gnomAD
rs754998794 CA4911284	183	R>W		No	ClinGen ExAC gnomAD
rs754998794	183	R>W		No	ExAC gnomAD
CA372413543 rs1347202220	185	S>P		No	ClinGen gnomAD
rs1347202220	185	S>P		No	gnomAD
rs62000416	186	L>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs62000416 CA4911285	186	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1387084519	186	L>P		No	gnomAD
rs1387084519 CA372413558	186	L>P		No	ClinGen gnomAD
rs752929582	187	P>L		No	ExAC TOPMed gnomAD
CA4911286 rs752929582	187	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752929582 CA187526068	187	P>R		No	ClinGen ExAC TOPMed gnomAD
rs752929582	187	P>R		No	ExAC TOPMed gnomAD
rs750126828 CA4911289	188	G>R		No	ClinGen ExAC TOPMed gnomAD
rs750126828	188	G>R		No	ExAC TOPMed gnomAD
rs540292430	190	T>K		No	ExAC TOPMed gnomAD
CA4911290 rs540292430	190	T>K		No	ClinGen ExAC TOPMed gnomAD
rs540292430 CA187526091	190	T>M		No	ClinGen ExAC TOPMed gnomAD
rs540292430	190	T>M		No	ExAC TOPMed gnomAD
rs1049837721 CA187526097	191	C>R		No	ClinGen TOPMed
rs1049837721	191	C>R		No	TOPMed
CA372413625 rs1239050843	192	L>S		No	ClinGen gnomAD
rs1239050843	192	L>S		No	gnomAD
CA4911292 rs748856325	193	Q>H		No	ClinGen ExAC gnomAD
rs748856325	193	Q>H		No	ExAC gnomAD
rs532113693	193	Q>L		No	1000Genomes gnomAD
rs532113693 CA372413640	193	Q>L		No	ClinGen 1000Genomes gnomAD
rs532113693 CA187526099	193	Q>R		No	ClinGen 1000Genomes gnomAD
rs532113693	193	Q>R		No	1000Genomes gnomAD
CA372413750 rs1408234138	194	G>D		No	ClinGen gnomAD
rs1408234138	194	G>D		No	gnomAD
rs1396330943 CA372413756	195	E>K		No	ClinGen gnomAD
rs1396330943	195	E>K		No	gnomAD
rs769149784	198	G>R		No	ExAC TOPMed gnomAD
CA4911358 rs769149784	198	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1393932218	201	S>R		No	TOPMed
CA372413832 rs1393932218	201	S>R		No	ClinGen TOPMed
CA372413849 rs1191252158	202	Q>*		No	ClinGen TOPMed
rs1191252158	202	Q>*		No	TOPMed
rs748202059 CA4911360	204	K>T		No	ClinGen ExAC gnomAD
rs748202059	204	K>T		No	ExAC gnomAD
rs149736517	205	T>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs149736517 CA372413899	205	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149736517 CA4911362	205	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149736517	205	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1213321682 CA372413932	208	I>V		No	ClinGen Ensembl
rs1213321682	208	I>V		No	Ensembl
rs201170624 CA4911366	209	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201170624	209	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs1254583219 CA372413985	212	S>I		No	ClinGen gnomAD
rs1254583219	212	S>I		No	gnomAD
rs764022893 CA4911368	213	T>I		No	ClinGen ExAC gnomAD
rs764022893	213	T>I		No	ExAC gnomAD
rs370525999	214	L>F		No	ESP ExAC TOPMed gnomAD
CA4911370 rs370525999	214	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4911372 rs750073736	215	A>T		No	ClinGen ExAC TOPMed gnomAD
rs750073736	215	A>T		No	ExAC TOPMed gnomAD
rs374934449	217	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374934449 CA4911373	217	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA187526584 rs985475918	217	R>W		No	ClinGen TOPMed gnomAD
rs985475918	217	R>W		No	TOPMed gnomAD
rs780298037 CA4911374	218	V>L		No	ClinGen ExAC gnomAD
rs780298037	218	V>L		No	ExAC gnomAD
rs1389994898 CA372414085	221	L>V		No	ClinGen TOPMed
rs1389994898	221	L>V		No	TOPMed
CA372414102 rs1299149908	222	V>G		No	ClinGen TOPMed
rs1299149908	222	V>G		No	TOPMed
CA372414093 rs754167925	222	V>I		No	ClinGen ExAC TOPMed
rs754167925	222	V>I		No	ExAC TOPMed
CA4911376 rs754167925	222	V>L		No	ClinGen ExAC TOPMed
rs754167925	222	V>L		No	ExAC TOPMed
rs1041153296 CA187526606	223	I>N		No	ClinGen TOPMed
rs1041153296	223	I>N		No	TOPMed
CA372414113 rs1041153296	223	I>T		No	ClinGen TOPMed
rs1041153296	223	I>T		No	TOPMed
rs755472903 CA4911377	224	D>V		No	ClinGen ExAC gnomAD
rs755472903	224	D>V		No	ExAC gnomAD
rs1308809368	227	L>F		No	TOPMed gnomAD
CA372414166 rs1308809368	227	L>F		No	ClinGen TOPMed gnomAD
rs1165661123	228	D>G		No	gnomAD
CA372414240 rs1165661123	228	D>G		No	ClinGen gnomAD
rs577037853	229	V>F		No	1000Genomes ExAC TOPMed gnomAD
rs577037853 CA372414250	229	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577037853	229	V>I		No	1000Genomes ExAC TOPMed gnomAD
CA4911404 rs577037853 COSM3698872	229	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA372414261 rs1291929713	230	L>F		No	ClinGen gnomAD
rs1291929713	230	L>F		No	gnomAD
CA4911405 rs143242888	231	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143242888	231	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138833870 CA4911406	233	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138833870	233	P>L		No	ESP ExAC TOPMed gnomAD
rs1255506233	234	D>G		No	TOPMed
rs1255506233 CA372414331	234	D>G		No	ClinGen TOPMed
CA372414353 rs1388938110	235	K>T		No	ClinGen gnomAD
rs1388938110	235	K>T		No	gnomAD
rs541556931	236	K>Q		No	1000Genomes ExAC TOPMed gnomAD
rs541556931 CA4911409	236	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1314358608	237	Q>E		No	gnomAD
CA372414399 rs1314358608	237	Q>E		No	ClinGen gnomAD
rs1586997399	237	Q>R		No	Ensembl
rs1586997399 CA372414410	237	Q>R		No	ClinGen Ensembl
CA4911410 rs140608348	240	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140608348	240	F>L		No	ESP ExAC TOPMed gnomAD
rs1466180896	241	Q>*		No	gnomAD
rs1466180896 CA372414523	241	Q>*		No	ClinGen gnomAD
rs776320321	242	P>S		No	ExAC gnomAD
rs776320321 CA4911411	242	P>S		No	ClinGen ExAC gnomAD
rs760041290	243	P>L		No	ExAC gnomAD
rs760041290 CA4911412	243	P>L		No	ClinGen ExAC gnomAD
rs1247375098	243	P>S		No	gnomAD
rs1247375098 CA372414578	243	P>S		No	ClinGen gnomAD
CA372414604 rs753049247	244	A>S		No	ClinGen ExAC TOPMed gnomAD
rs753049247	244	A>S		No	ExAC TOPMed gnomAD
CA4911414 rs753049247	244	A>T		No	ClinGen ExAC TOPMed gnomAD
rs753049247	244	A>T		No	ExAC TOPMed gnomAD
rs758975277 CA4911415	244	A>V		No	ClinGen ExAC TOPMed gnomAD
rs758975277	244	A>V		No	ExAC TOPMed gnomAD
rs939034007	245	T>A		No	TOPMed
CA187526974 rs939034007	245	T>A		No	ClinGen TOPMed
rs376689699	247	H>Q		No	ESP ExAC gnomAD
CA372414977 rs376689699	247	H>Q		No	ClinGen ESP ExAC gnomAD
rs1479271973	248	K>E		No	gnomAD
rs1479271973 CA372414996	248	K>E		No	ClinGen gnomAD
rs1416738705	248	K>R		No	TOPMed
CA372415005 rs1416738705	248	K>R		No	ClinGen TOPMed
rs1425107621 CA372415033	249	R>C		No	ClinGen TOPMed gnomAD
rs1425107621	249	R>C		No	TOPMed gnomAD
rs1425107621	249	R>G		No	TOPMed gnomAD
CA372415030 rs1425107621	249	R>G		No	ClinGen TOPMed gnomAD
CA4911443 rs138749323 RCV000886682	249	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs138749323	249	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138749323	249	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
CA372415048 rs138749323	249	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770711824 CA372415093	251	T>K		No	ClinGen ExAC TOPMed gnomAD
rs770711824	251	T>K		No	ExAC TOPMed gnomAD
rs770711824	251	T>M		No	ExAC TOPMed gnomAD
rs770711824 CA4911445	251	T>M		No	ClinGen ExAC TOPMed gnomAD
rs770711824	251	T>R		No	ExAC TOPMed gnomAD
rs770711824 CA4911444	251	T>R		No	ClinGen ExAC TOPMed gnomAD
COSM1132823 rs769590595 CA372415124	252	S>R	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769590595	252	S>R		No	ExAC TOPMed gnomAD
CA4911448 rs148948671	253	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148948671	253	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs769059834 CA4911450	254	G>D		No	ClinGen ExAC gnomAD
rs769059834	254	G>D		No	ExAC gnomAD
rs763450765 CA4911449	254	G>R		No	ClinGen ExAC gnomAD
rs763450765	254	G>R		No	ExAC gnomAD
rs762387131 CA372415163	255	A>D		No	ClinGen ExAC gnomAD
rs762387131	255	A>D		No	ExAC gnomAD
CA4911451 rs201739470	255	A>T		No	ClinGen ExAC TOPMed gnomAD
rs201739470	255	A>T		No	ExAC TOPMed gnomAD
rs762387131 CA4911452	255	A>V		No	ClinGen ExAC gnomAD
rs762387131	255	A>V		No	ExAC gnomAD
rs767872685 CA4911453	256	W>*		No	ClinGen ExAC gnomAD
rs767872685	256	W>*		No	ExAC gnomAD
rs750522920	258	Q>*		No	ExAC gnomAD
rs750522920 CA4911454	258	Q>*		No	ClinGen ExAC gnomAD
CA187527395 rs1001645759	260	P>L		No	ClinGen gnomAD
rs1001645759	260	P>L		No	gnomAD
rs1298264993 CA372415324	262	G>R		No	ClinGen Ensembl
rs1298264993	262	G>R		No	Ensembl
rs766625613	265	M>I		No	ExAC gnomAD
rs766625613 CA4911456	265	M>I		No	ClinGen ExAC gnomAD
rs1487826353 CA372415491	266	M>I		No	ClinGen gnomAD
rs1487826353	266	M>I		No	gnomAD
rs1441025636 CA372415468	266	M>K		No	ClinGen TOPMed
rs1441025636	266	M>K		No	TOPMed
rs754051150	268	C>Y		No	ExAC gnomAD
CA4911457 rs754051150	268	C>Y		No	ClinGen ExAC gnomAD
rs1352464165 CA372415569	269	L>F		No	ClinGen TOPMed
rs1352464165	269	L>F		No	TOPMed
rs777641011	270	H>R		No	ExAC gnomAD
CA4911459 rs777641011	270	H>R		No	ClinGen ExAC gnomAD
rs757253781 CA4911461	271	N>S		No	ClinGen ExAC TOPMed gnomAD
rs757253781	271	N>S		No	ExAC TOPMed gnomAD
CA4911463 rs780944198	275	D>H		No	ClinGen ExAC TOPMed gnomAD
rs780944198	275	D>H		No	ExAC TOPMed gnomAD
CA4911464 rs780944198	275	D>N		No	ClinGen ExAC TOPMed gnomAD
rs780944198	275	D>N		No	ExAC TOPMed gnomAD
rs773763225 CA4911492	276	G>E		No	ClinGen ExAC TOPMed gnomAD
rs773763225	276	G>E		No	ExAC TOPMed gnomAD
CA4911494 COSM1243297 rs528160284	279	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs528160284	279	A>V		No	1000Genomes ExAC TOPMed gnomAD
CA372416070 rs1404037213	281	G>E		No	ClinGen gnomAD
rs1404037213	281	G>E		No	gnomAD
rs759488186	282	A>E		No	ExAC TOPMed gnomAD
rs759488186 CA187527628	282	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1226341854	282	A>T		No	TOPMed gnomAD
CA372416080 rs1226341854	282	A>T		No	ClinGen TOPMed gnomAD
CA4911496 rs759488186	282	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759488186	282	A>V		No	ExAC TOPMed gnomAD
rs775546175	286	D>N		No	ExAC gnomAD
CA4911498 rs775546175	286	D>N		No	ClinGen ExAC gnomAD
rs1451293948	289	G>D		No	TOPMed
CA372416280 rs1451293948	289	G>D		No	ClinGen TOPMed
rs1288248254 CA372416275	289	G>S		No	ClinGen TOPMed
rs1288248254	289	G>S		No	TOPMed
rs187977133 CA372416320	291	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187977133	291	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs187977133	291	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs187977133 CA4911501	291	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4911500 rs767407254	291	R>W		No	ClinGen ExAC gnomAD
rs767407254	291	R>W		No	ExAC gnomAD
CA187527662 rs1038448930	292	A>S		No	ClinGen Ensembl
rs1038448930	292	A>S		No	Ensembl
rs756152088	293	E>Q		No	ExAC gnomAD
CA4911502 rs756152088	293	E>Q		No	ClinGen ExAC gnomAD
rs766368883	294	V>L		No	ExAC gnomAD
rs766368883 CA4911503	294	V>L		No	ClinGen ExAC gnomAD
CA4911504 rs766368883	294	V>M		No	ClinGen ExAC gnomAD
rs766368883	294	V>M		No	ExAC gnomAD
rs541934814	296	T>A		No	1000Genomes ExAC gnomAD
CA4911506 rs541934814	296	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs747739120	296	T>I		No	ExAC gnomAD
CA4911508 rs747739120	296	T>I		No	ClinGen ExAC gnomAD
CA4911507 rs747739120	296	T>S		No	ClinGen ExAC gnomAD
rs747739120	296	T>S		No	ExAC gnomAD
rs1471997416	301	L>P		No	gnomAD
CA372416584 rs1471997416	301	L>P		No	ClinGen gnomAD
CA187527704 rs868696834	305	D>V		No	ClinGen gnomAD
rs868696834	305	D>V		No	gnomAD
rs943174877	307	E>G		No	TOPMed gnomAD
CA187527748 rs943174877	307	E>G		No	ClinGen TOPMed gnomAD
rs776984592	307	E>Q		No	ExAC gnomAD
CA4911512 rs776984592	307	E>Q		No	ClinGen ExAC gnomAD
rs150684849	309	C>Y		No	ESP ExAC TOPMed gnomAD
rs150684849 CA4911513	309	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA372416819 rs1269154694	311	L>M		No	ClinGen TOPMed
rs1269154694	311	L>M		No	TOPMed
CA4911514 rs769760222	311	L>Q		No	ClinGen ExAC gnomAD
rs769760222	311	L>Q		No	ExAC gnomAD
rs1301769317	314	E>D		No	gnomAD
rs1301769317 CA372416900	314	E>D		No	ClinGen gnomAD
rs763097761	315	G>A		No	ExAC gnomAD
CA4911516 rs763097761	315	G>A		No	ClinGen ExAC gnomAD
rs1345255743 CA372416905	315	G>S		No	ClinGen gnomAD
rs1345255743	315	G>S		No	gnomAD
rs763097761	315	G>V		No	ExAC gnomAD
rs763097761 CA372416919	315	G>V		No	ClinGen ExAC gnomAD
rs760522049 CA4911519	318	G>E		No	ClinGen ExAC gnomAD
rs760522049	318	G>E		No	ExAC gnomAD
CA4911518 rs764370845	318	G>R		No	ClinGen ExAC gnomAD
rs764370845	318	G>R		No	ExAC gnomAD
rs764370845	318	G>R		No	ExAC gnomAD
CA4911517 rs764370845	318	G>R		No	ClinGen ExAC gnomAD
rs1034452031	319	V>L		No	gnomAD
CA187527773 rs1034452031	319	V>L		No	ClinGen gnomAD
rs753713126 CA372417053	321	R>P		No	ClinGen ExAC TOPMed gnomAD
rs753713126	321	R>P		No	ExAC TOPMed gnomAD
CA4911521 rs753713126 COSM1455348	321	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753713126	321	R>Q		No	ExAC TOPMed gnomAD
CA4911520 rs766456828	321	R>W		No	ClinGen ExAC TOPMed gnomAD
rs766456828	321	R>W		No	ExAC TOPMed gnomAD
rs1451128623 CA372417167	324	L>M		No	ClinGen gnomAD
rs1451128623	324	L>M		No	gnomAD
rs764663996 CA4911523	324	L>P		No	ClinGen ExAC TOPMed gnomAD
rs764663996	324	L>P		No	ExAC TOPMed gnomAD
rs375586491 CA4911524	325	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs375586491	325	A>V		No	ESP ExAC TOPMed gnomAD
rs1016958870 CA187527807	326	L>R		No	ClinGen TOPMed
rs1016958870	326	L>R		No	TOPMed
rs1020784750 CA187527812	327	R>*		No	ClinGen gnomAD
rs1020784750	327	R>*		No	gnomAD
CA4911527 rs372538469	327	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372538469	327	R>P		No	ESP ExAC TOPMed gnomAD
rs372538469	327	R>Q		No	ESP ExAC TOPMed gnomAD
CA4911526 rs372538469	327	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201561996	328	A>T		No	1000Genomes ExAC gnomAD
CA4911528 rs201561996	328	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs149442409 CA4911529	329	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149442409	329	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
CA372417312 rs1372548631	330	E>G		No	ClinGen TOPMed
rs1372548631	330	E>G		No	TOPMed
rs1367735499	331	E>A		No	gnomAD
CA372417339 rs1367735499	331	E>A		No	ClinGen gnomAD
rs746349634	331	E>D		No	ExAC TOPMed gnomAD
CA4911530 rs746349634	331	E>D		No	ClinGen ExAC TOPMed gnomAD
rs147352021	332	A>V		No	ESP ExAC TOPMed gnomAD
CA4911531 rs147352021	332	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1045787171	339	L>R		No	Ensembl
rs1045787171 CA187527921	339	L>R		No	ClinGen Ensembl
CA372419152 rs1183769375	340	G>R		No	ClinGen gnomAD
rs1183769375	340	G>R		No	gnomAD
CA372419161 rs1563907722	340	G>V		No	ClinGen Ensembl
rs1563907722	340	G>V		No	Ensembl
CA4911550 rs371807365	341	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371807365	341	P>L		No	ESP ExAC TOPMed gnomAD
rs780586972	341	P>S		No	ExAC TOPMed gnomAD
rs780586972 CA4911549	341	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1414822923	343	E>*		No	gnomAD
CA372419186 rs1414822923	343	E>*		No	ClinGen gnomAD
rs1158854301	344	P>S		No	gnomAD
rs1158854301 CA372419200	344	P>S		No	ClinGen gnomAD
rs1481711687 CA372419225	346	D>G		No	ClinGen gnomAD
rs1481711687	346	D>G		No	gnomAD
rs772265737	347	G>S		No	ExAC TOPMed gnomAD
CA4911554 rs772265737	347	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4911555 rs776317568	350	G>V		No	ClinGen ExAC gnomAD
rs776317568	350	G>V		No	ExAC gnomAD
CA187527956 rs113791380	351	A>T		No	ClinGen Ensembl
rs113791380	351	A>T		No	Ensembl
rs1006175605	352	V>L		No	TOPMed
CA187527960 rs1006175605	352	V>L		No	ClinGen TOPMed
rs1425073402	353	L>P		No	gnomAD
rs1425073402 CA372419298	353	L>P		No	ClinGen gnomAD
rs1306228607 CA372419306	354	E>A		No	ClinGen gnomAD
rs1306228607	354	E>A		No	gnomAD
rs775377667	355	C>S		No	ExAC gnomAD
rs775377667 CA4911558	355	C>S		No	ClinGen ExAC gnomAD
CA372419332 rs1256807283	356	L>P		No	ClinGen gnomAD
rs1256807283	356	L>P		No	gnomAD
CA4911559 rs369365885	356	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs369365885	356	L>V		No	ESP ExAC TOPMed gnomAD
rs763582690	358	L>V		No	ExAC TOPMed gnomAD
rs763582690 CA4911560	358	L>V		No	ClinGen ExAC TOPMed gnomAD
rs539532876 CA372419367	359	S>F		No	ClinGen 1000Genomes TOPMed gnomAD
rs539532876	359	S>F		No	1000Genomes TOPMed gnomAD
rs539532876	359	S>Y		No	1000Genomes TOPMed gnomAD
rs539532876 CA187527978	359	S>Y		No	ClinGen 1000Genomes TOPMed gnomAD
rs1435205062	361	G>E		No	gnomAD
CA372419376 rs1435205062	361	G>E		No	ClinGen gnomAD
rs557830594 CA187527979	361	G>R		No	ClinGen 1000Genomes gnomAD
rs557830594	361	G>R		No	1000Genomes gnomAD
rs372289172 CA372419389	363	L>M		No	ClinGen TOPMed gnomAD
rs372289172	363	L>M		No	TOPMed gnomAD
CA187527988 rs1038767813	363	L>P		No	ClinGen TOPMed
rs1038767813	363	L>P		No	TOPMed
rs761458756	364	V>M		No	ExAC gnomAD
CA4911563 rs761458756	364	V>M		No	ClinGen ExAC gnomAD
rs747932108 CA4911564	365	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747932108	365	P>L		No	ExAC TOPMed gnomAD
rs747932108	365	P>R		No	ExAC TOPMed gnomAD
rs747932108 CA4911565	365	P>R		No	ClinGen ExAC TOPMed gnomAD
rs755957881	366	E>Q		No	Ensembl
rs755957881 CA187528002	366	E>Q		No	ClinGen Ensembl
CA187528010 rs879845110	368	A>G		No	ClinGen TOPMed gnomAD
rs879845110	368	A>G		No	TOPMed gnomAD
rs766860336	368	A>S		No	ExAC TOPMed gnomAD
rs766860336 CA372419416	368	A>S		No	ClinGen ExAC TOPMed gnomAD
rs766860336	368	A>T		No	ExAC TOPMed gnomAD
rs766860336 CA4911567	368	A>T		No	ClinGen ExAC TOPMed gnomAD
rs879845110	368	A>V		No	TOPMed gnomAD
CA372419418 rs879845110	368	A>V		No	ClinGen TOPMed gnomAD
rs1200776209 CA372419423	369	I>T		No	ClinGen TOPMed
rs1200776209	369	I>T		No	TOPMed
COSM1292630 CA372419429 rs1371180946	370	P>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1371180946	370	P>H		No	gnomAD
rs1220728914	371	V>F		No	TOPMed gnomAD
CA372419434 rs1220728914	371	V>F		No	ClinGen TOPMed gnomAD
rs1586998695	375	L>R		No	Ensembl
rs1586998695 CA372419460	375	L>R		No	ClinGen Ensembl
rs1297040773	376	G>E		No	TOPMed gnomAD
rs1297040773 CA372419466	376	G>E		No	ClinGen TOPMed gnomAD
rs1445922243	377	A>S		No	TOPMed
rs1445922243 CA372419469	377	A>S		No	ClinGen TOPMed
rs1361367060 CA372419478	377	A>V		No	ClinGen TOPMed
rs1361367060	377	A>V		No	TOPMed
rs1335475894	380	M>L		No	TOPMed
CA372419509 rs1335475894	380	M>L		No	ClinGen TOPMed
rs768603468	380	M>T		No	ExAC gnomAD
CA4911595 rs768603468	380	M>T		No	ClinGen ExAC gnomAD
CA4911597 rs747678940	382	S>R		No	ClinGen ExAC TOPMed gnomAD
rs747678940	382	S>R		No	ExAC TOPMed gnomAD
rs771597025	383	E>K		No	ExAC gnomAD
rs771597025 CA4911598	383	E>K		No	ClinGen ExAC gnomAD
CA4911599 rs371816989	384	T>M		No	ClinGen ExAC TOPMed gnomAD
rs371816989	384	T>M		No	ExAC TOPMed gnomAD
rs766087548 CA4911601	385	Q>R		No	ClinGen ExAC gnomAD
rs766087548	385	Q>R		No	ExAC gnomAD
rs777154727	386	H>Q		No	ExAC TOPMed gnomAD
CA4911602 rs777154727	386	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1417056476	386	H>Y		No	gnomAD
CA372419654 rs1417056476	386	H>Y		No	ClinGen gnomAD
CA372419713 rs1385349686	389	L>P		No	ClinGen gnomAD
rs1385349686	389	L>P		No	gnomAD
rs1399916955	390	A>T		No	gnomAD
rs1399916955 CA372419717	390	A>T		No	ClinGen gnomAD
rs201891556	390	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201891556 CA4911603	390	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1415462923	391	E>A		No	gnomAD
CA372419743 rs1415462923	391	E>A		No	ClinGen gnomAD
rs879654735	392	A>T		No	Ensembl
rs879654735 CA187528227	392	A>T		No	ClinGen Ensembl
CA187528239 rs1021508992	392	A>V		No	ClinGen TOPMed gnomAD
rs1021508992	392	A>V		No	TOPMed gnomAD
CA4911606 rs763003782	393	L>V		No	ClinGen ExAC gnomAD
rs763003782	393	L>V		No	ExAC gnomAD
rs1350345109 CA372419793	394	E>A		No	ClinGen gnomAD
rs1350345109	394	E>A		No	gnomAD
rs751529628	395	S>*		No	ExAC TOPMed gnomAD
rs751529628 CA372419808	395	S>*		No	ClinGen ExAC TOPMed gnomAD
rs947601161 CA187528256	395	S>A		No	ClinGen TOPMed gnomAD
rs947601161	395	S>A		No	TOPMed gnomAD
rs751529628	395	S>L		No	ExAC TOPMed gnomAD
CA4911608 rs751529628	395	S>L		No	ClinGen ExAC TOPMed gnomAD
rs947601161 CA372419804	395	S>T		No	ClinGen TOPMed gnomAD
rs947601161	395	S>T		No	TOPMed gnomAD
CA4911611 RCV000961157 rs74645610	396	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs74645610	396	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1484421479	397	T>N		No	TOPMed gnomAD
rs1484421479 CA372419843	397	T>N		No	ClinGen TOPMed gnomAD
rs1424204860	399	L>W		No	TOPMed
CA372419870 rs1424204860	399	L>W		No	ClinGen TOPMed
rs1051849316	400	G>R		No	Ensembl
CA187528289 rs1051849316	400	G>R		No	ClinGen Ensembl
rs1427503386	401	P>L		No	TOPMed gnomAD
CA372419905 rs1427503386	401	P>L		No	ClinGen TOPMed gnomAD
rs748128925	402	L>P		No	ExAC gnomAD
CA4911615 rs748128925	402	L>P		No	ClinGen ExAC gnomAD
rs144173624	403	E>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs144173624 CA372419928	403	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144173624	403	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs144173624 RCV000880868 CA4911618	403	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746573396 CA4911635	405	V>G		No	ClinGen ExAC gnomAD
rs746573396	405	V>G		No	ExAC gnomAD
rs928379321 CA187528485	406	G>S		No	ClinGen gnomAD
rs928379321	406	G>S		No	gnomAD
rs1313129393	407	S>R		No	TOPMed
rs1313129393 CA372420062	407	S>R		No	ClinGen TOPMed
rs1165448169	409	L>S		No	gnomAD
CA372420073 rs1165448169	409	L>S		No	ClinGen gnomAD
CA4911637 rs781051727	410	E>Q		No	ClinGen ExAC gnomAD
rs781051727	410	E>Q		No	ExAC gnomAD
rs769506098 CA4911639	411	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs769506098	411	Q>H		No	ExAC TOPMed gnomAD
rs569474023 CA4911638	411	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs569474023	411	Q>R		No	1000Genomes ExAC gnomAD
rs1161252300	412	S>N		No	TOPMed gnomAD
rs1161252300 CA372420092	412	S>N		No	ClinGen TOPMed gnomAD
rs1161252300	412	S>T		No	TOPMed gnomAD
rs1161252300 CA372420093	412	S>T		No	ClinGen TOPMed gnomAD
rs980371799	413	A>V		No	TOPMed gnomAD
CA187528507 rs980371799	413	A>V		No	ClinGen TOPMed gnomAD
rs1325290515 CA372420107	414	P>L		No	ClinGen gnomAD
rs1325290515	414	P>L		No	gnomAD
rs1295876362	414	P>S		No	gnomAD
rs1295876362 CA372420104	414	P>S		No	ClinGen gnomAD
rs181459216	415	W>L		No	1000Genomes
rs181459216 CA187528527	415	W>L		No	ClinGen 1000Genomes
rs774715798	417	E>K		No	ExAC gnomAD
rs774715798 CA4911643	417	E>K		No	ClinGen ExAC gnomAD
rs761937248	418	R>C		No	ExAC gnomAD
rs761937248 CA4911644	418	R>C		No	ClinGen ExAC gnomAD
CA187528577 rs991094969	418	R>H		No	ClinGen TOPMed gnomAD
rs991094969	418	R>H		No	TOPMed gnomAD
CA372420182 rs1467564168	420	T>S		No	ClinGen TOPMed
rs1467564168	420	T>S		No	TOPMed
rs1359490068	421	M>T		No	TOPMed
rs1359490068 CA372420196	421	M>T		No	ClinGen TOPMed
CA4911645 rs767598450	422	S>F		No	ClinGen ExAC gnomAD
rs767598450	422	S>F		No	ExAC gnomAD
rs1158230466	423	L>P		No	TOPMed
CA372420227 rs1158230466	423	L>P		No	ClinGen TOPMed
rs760915140 CA372420239	424	P>H		No	ClinGen ExAC TOPMed gnomAD
rs760915140	424	P>H		No	ExAC TOPMed gnomAD
CA4911648 rs760915140	424	P>L		No	ClinGen ExAC TOPMed gnomAD
rs760915140	424	P>L		No	ExAC TOPMed gnomAD
rs201141849	424	P>S		No	1000Genomes ExAC TOPMed gnomAD
CA4911647 rs201141849	424	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372420247 rs1419184754	425	P>S		No	ClinGen gnomAD
rs1419184754	425	P>S		No	gnomAD
rs566477078	426	G>E		No	1000Genomes ExAC gnomAD
rs566477078 CA4911650	426	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs866256696	426	G>R		No	TOPMed gnomAD
CA187528614 rs866256696	426	G>R		No	ClinGen TOPMed gnomAD
rs758094149	430	N>S		No	ExAC gnomAD
CA4911651 rs758094149	430	N>S		No	ClinGen ExAC gnomAD
rs1386325603	431	S>N		No	gnomAD
rs1386325603 CA372420345	431	S>N		No	ClinGen gnomAD
rs1289015460	431	S>R		No	gnomAD
rs1289015460 CA372420355	431	S>R		No	ClinGen gnomAD
rs1483903535	432	W>*		No	TOPMed
rs1483903535 CA372420371	432	W>*		No	ClinGen TOPMed
CA4911652 rs764162554	433	G>S		No	ClinGen ExAC gnomAD
rs764162554	433	G>S		No	ExAC gnomAD
rs1380009948 CA372420389	433	G>V		No	ClinGen gnomAD
rs1380009948	433	G>V		No	gnomAD
rs200540390	434	E>*		No	1000Genomes ExAC TOPMed gnomAD
CA187528645 rs200540390	434	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555636552	434	E>G		No	1000Genomes ExAC gnomAD
CA4911654 rs555636552	434	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4911653 rs200540390	434	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200540390	434	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1291391810 CA372420416	435	G>*		No	ClinGen gnomAD
rs1291391810	435	G>*		No	gnomAD
rs1291391810	435	G>R		No	gnomAD
rs1291391810	435	G>R		No	gnomAD
rs1291391810 CA372420413	435	G>R		No	ClinGen gnomAD
rs1291391810 CA372420411	435	G>R		No	ClinGen gnomAD
CA187528648 rs1042493636	436	A>T		No	ClinGen TOPMed gnomAD
rs1042493636	436	A>T		No	TOPMed gnomAD
rs780857641	436	A>V		No	ExAC gnomAD
rs780857641 CA4911655	436	A>V		No	ClinGen ExAC gnomAD
rs745331908 CA4911656	437	P>A		No	ClinGen ExAC gnomAD
rs745331908	437	P>A		No	ExAC gnomAD
rs374790200 CA372420447	437	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374790200	437	P>L		No	ESP ExAC TOPMed gnomAD
rs374790200 CA4911657	437	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs374790200	437	P>Q		No	ESP ExAC TOPMed gnomAD
rs573558883	438	A>D		No	1000Genomes ExAC TOPMed gnomAD
rs573558883 CA4911659	438	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573558883	438	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs573558883 CA372420460	438	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573558883	438	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs573558883 CA4911660	438	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1186352326	439	W>*		No	gnomAD
CA372420473 rs1186352326	439	W>*		No	ClinGen gnomAD
rs1420042165 CA372420522	442	L>V		No	ClinGen gnomAD
rs1420042165	442	L>V		No	gnomAD
CA372420535 rs1319575662	443	D>N		No	ClinGen TOPMed
rs1319575662	443	D>N		No	TOPMed
rs772527255 CA4911663	444	E>G		No	ClinGen ExAC TOPMed
rs772527255	444	E>G		No	ExAC TOPMed
rs377609261	444	E>K		No	ESP ExAC TOPMed gnomAD
CA4911662 rs377609261	444	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1266831914 CA372420581	446	G>D		No	ClinGen gnomAD
rs1266831914	446	G>D		No	gnomAD
rs760718089	449	L>P		No	ExAC TOPMed gnomAD
CA4911665 rs760718089	449	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1314366431	449	L>V		No	TOPMed gnomAD
CA372420598 rs1314366431	449	L>V		No	ClinGen TOPMed gnomAD
CA372420601 rs1413647355	450	G>R		No	ClinGen TOPMed gnomAD
rs1413647355	450	G>R		No	TOPMed gnomAD
rs143727728 CA4911667	451	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143727728	451	E>K		No	1000Genomes ExAC TOPMed gnomAD
CA4911669 rs138643473 RCV000963915	453	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs138643473	453	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs751336233	453	T>I		No	ExAC gnomAD
CA4911670 rs751336233	453	T>I		No	ClinGen ExAC gnomAD
CA372420629 rs751336233	453	T>S		No	ClinGen ExAC gnomAD
rs751336233	453	T>S		No	ExAC gnomAD
rs757292360	454	P>A		No	ExAC TOPMed gnomAD
CA4911671 rs757292360	454	P>A		No	ClinGen ExAC TOPMed gnomAD
rs767513470 CA4911672	454	P>R		No	ClinGen ExAC TOPMed gnomAD
rs767513470	454	P>R		No	ExAC TOPMed gnomAD
CA372420637 rs757292360	454	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757292360	454	P>S		No	ExAC TOPMed gnomAD
rs750004853	455	H>D		No	ExAC gnomAD
rs750004853 CA4911673	455	H>D		No	ClinGen ExAC gnomAD
rs755549751	455	H>P		No	ExAC gnomAD
CA4911674 rs755549751	455	H>P		No	ClinGen ExAC gnomAD
rs1176958316	456	V>A		No	TOPMed gnomAD
rs1176958316 CA372420680	456	V>A		No	ClinGen TOPMed gnomAD
rs1481272520	456	V>M		No	gnomAD
rs1481272520 CA372420669	456	V>M		No	ClinGen gnomAD
rs1248816475 CA372420720	458	W>*		No	ClinGen gnomAD
rs1248816475	458	W>*		No	gnomAD
CA4911676 rs371105653	459	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs371105653	459	E>Q		No	ESP ExAC TOPMed gnomAD
rs754592648 CA4911677	460	P>L		No	ClinGen ExAC TOPMed gnomAD
rs754592648	460	P>L		No	ExAC TOPMed gnomAD
CA4911679 rs748460491	461	Q>K		No	ClinGen ExAC gnomAD
rs748460491	461	Q>K		No	ExAC gnomAD
rs772612998 CA372420784	462	A>D		No	ClinGen ExAC TOPMed gnomAD
rs772612998	462	A>D		No	ExAC TOPMed gnomAD
CA372420777 rs1321055935	462	A>T		No	ClinGen TOPMed
rs1321055935	462	A>T		No	TOPMed
rs772612998 CA4911680	462	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772612998	462	A>V		No	ExAC TOPMed gnomAD
CA4911681 rs773675604	463	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs773675604	463	Q>H		No	ExAC TOPMed gnomAD
CA4911683 rs770905851	465	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770905851	465	R>C		No	ExAC TOPMed gnomAD
rs776717465 CA372420829	465	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776717465	465	R>H		No	ExAC TOPMed gnomAD
rs776717465	465	R>P		No	ExAC TOPMed gnomAD
CA4911684 rs776717465	465	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1409694535	466	M>T		No	gnomAD
CA372420848 rs1409694535	466	M>T		No	ClinGen gnomAD
rs759686259 CA4911686	467	C>F		No	ClinGen ExAC TOPMed gnomAD
rs759686259	467	C>F		No	ExAC TOPMed gnomAD
rs1442835277	467	C>R		No	gnomAD
CA372420860 rs1442835277	467	C>R		No	ClinGen gnomAD
rs1442835277	467	C>S		No	gnomAD
CA372420858 rs1442835277	467	C>S		No	ClinGen gnomAD
rs759686259 CA4911685	467	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs759686259	467	C>Y		No	ExAC TOPMed gnomAD
rs1451918157 CA372420900	469	L>P		No	ClinGen TOPMed
rs1451918157	469	L>P		No	TOPMed
CA4911688 rs11551199	471	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11551199	471	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4911689 rs767605223	471	A>V		No	ClinGen ExAC gnomAD
rs767605223	471	A>V		No	ExAC gnomAD
rs750383151	473	L>M		No	ExAC gnomAD
CA4911690 rs750383151	473	L>M		No	ClinGen ExAC gnomAD
rs760601268 CA4911691	474	A>V		No	ClinGen ExAC gnomAD
rs760601268	474	A>V		No	ExAC gnomAD
rs1194729453	475	L>V		No	gnomAD
CA372420978 rs1194729453	475	L>V		No	ClinGen gnomAD
rs754608215	481	Q>*		No	ExAC TOPMed gnomAD
rs754608215 CA4911695	481	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1490376820	483	P>S		No	TOPMed
rs1490376820 CA372421104	483	P>S		No	ClinGen TOPMed
rs1189129180	485	H>Y		No	gnomAD
rs1189129180 CA372421150	485	H>Y		No	ClinGen gnomAD

No associated diseases with P57764

2 regional properties for P57764

Type	Name	Position	InterPro Accession
domain	Gasdermin, pore forming domain	4 - 242	IPR040460
domain	Gasdermin, PUB domain	285 - 456	IPR041263

Functions

		Description
EC Number
Subcellular Localization	[Gasdermin-D]: Cytoplasm, cytosol Inflammasome	In response to a canonical inflammasome stimulus, such as nigericin, recruited to NLRP3 inflammasone with similar kinetics to that of uncleaved CASP1 precursor
PANTHER Family	PTHR16399	GASDERMIN
PANTHER Subfamily	PTHR16399:SF15	GASDERMIN-D
PANTHER Protein Class	transporter
PANTHER Pathway Category	No pathway information available

10 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.
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.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
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.
NLRP3 inflammasome complex	An inflammasome complex that consists of three components, NLRP3 (NALP3), PYCARD and caspase-1. It is activated upon exposure to whole pathogens, as well as a number of structurally diverse pathogen- and danger-associated molecular patterns (PAMPs and DAMPs) and environmental irritants. Whole pathogens demonstrated to activate the NLRP3 inflammasome complex include the fungi Candida albicans and Saccharomyces cerevisiae, bacteria that produce pore-forming toxins, including Listeria monocytogenes and Staphylococcus aureus, and viruses such as Sendai virus, adenovirus, and influenza virus.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
specific granule lumen	The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.
tertiary granule lumen	Any membrane-enclosed lumen that is part of a tertiary granule.

6 GO annotations of molecular function

Name	Definition
cardiolipin binding	Binding to cardiolipin.
phosphatidic acid binding	Binding to phosphatidic acid, any of a class of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
phosphatidylinositol-4-phosphate binding	Binding to phosphatidylinositol-4-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' position.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.
wide pore channel activity	Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts.

11 GO annotations of biological process

Name	Definition
cellular response to extracellular stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus.
defense response to bacterium	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
defense response to Gram-negative bacterium	Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism.
defense response to Gram-positive bacterium	Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
pore complex assembly	The aggregation, arrangement and bonding together of a set of components to form a pore complex. A pore complex is a small opening in a membrane that allows the passage of liquids and/or gases.
pore formation in membrane of other organism	The aggregation, arrangement and bonding together of a set of components by an organism to form a pore complex in a membrane of another organism.
positive regulation of interleukin-1 beta production	Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
protein homooligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
pyroptosis	A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96QA5	GSDMA	Gasdermin-A	Homo sapiens (Human)	SS
Q9BYG8	GSDMC	Gasdermin-C	Homo sapiens (Human)	SS
Q8TAX9	GSDMB	Gasdermin-B	Homo sapiens (Human)	EV
Q2KHK6	Gsdmc2	Gasdermin-C2	Mus musculus (Mouse)	SS
Q32M21	Gsdma2	Gasdermin-A2	Mus musculus (Mouse)	SS
Q3TR54	Gsdmc4	Gasdermin-C4	Mus musculus (Mouse)	SS
Q5Y4Y6	Gsdma3	Gasdermin-A3	Mus musculus (Mouse)	EV
Q8CB12	Gsdmc3	Gasdermin-C3	Mus musculus (Mouse)	SS
Q99NB5	Gsdmc	Gasdermin-C	Mus musculus (Mouse)	SS
Q9EST1	Gsdma	Gasdermin-A	Mus musculus (Mouse)	SS
Q9D8T2	Gsdmd	Gasdermin-D	Mus musculus (Mouse)	SS
P85967	Gsdmc	Gasdermin-C	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MGSAFERVVR	RVVQELDHGG	EFIPVTSLQS	STGFQPYCLV	VRKPSSSWFW	KPRYKCVNLS
70	80	90	100	110	120
IKDILEPDAA	EPDVQRGRSF	HFYDAMDGQI	QGSVELAAPG	QAKIAGGAAV	SDSSSTSMNV
130	140	150	160	170	180
YSLSVDPNTW	QTLLHERHLR	QPEHKVLQQL	RSRGDNVYVV	TEVLQTQKEV	EVTRTHKREG
190	200	210	220	230	240
SGRFSLPGAT	CLQGEGQGHL	SQKKTVTIPS	GSTLAFRVAQ	LVIDSDLDVL	LFPDKKQRTF
250	260	270	280	290	300
QPPATGHKRS	TSEGAWPQLP	SGLSMMRCLH	NFLTDGVPAE	GAFTEDFQGL	RAEVETISKE
310	320	330	340	350	360
LELLDRELCQ	LLLEGLEGVL	RDQLALRALE	EALEQGQSLG	PVEPLDGPAG	AVLECLVLSS
370	380	390	400	410	420
GMLVPELAIP	VVYLLGALTM	LSETQHKLLA	EALESQTLLG	PLELVGSLLE	QSAPWQERST
430	440	450	460	470	480
MSLPPGLLGN	SWGEGAPAWV	LLDECGLELG	EDTPHVCWEP	QAQGRMCALY	ASLALLSGLS

QEPH