AiPD: Autoinhibited Protein Database

Q6ZV89

Gene name	SH2D5
Protein name	SH2 domain-containing protein 5
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:400745
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

368-423 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

368-423 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q6ZV89

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6ZV89-F1	Predicted				AlphaFoldDB

407 variants for Q6ZV89

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA338852069 CA338852071 rs1375846122	2	Q>H		No	ClinGen TOPMed gnomAD
rs1171874808 CA338852057	3	K>N		No	ClinGen gnomAD
rs1042099179 CA18997343	4	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA338852031 rs1477220232	6	A>T		No	ClinGen gnomAD
rs960225559 CA18997338	6	A>V		No	ClinGen TOPMed gnomAD
rs753655058 CA662990	7	G>W		No	ClinGen ExAC gnomAD
rs1486825161 CA338851984	9	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs61778527 CA662988	9	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs61778527 CA662987	9	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA18997325 rs61778527	9	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA338851975 rs1200307186	10	R>K		No	ClinGen gnomAD
CA338851915 rs759062962	14	C>*		No	ClinGen ExAC TOPMed gnomAD
CA662986 rs570257258	14	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338851926 rs1176793224	14	C>R		No	ClinGen TOPMed
CA18997302 rs759062962	14	C>W		No	ClinGen ExAC TOPMed gnomAD
CA18997309 rs570257258	14	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338851906 CA662984 rs751264434	15	G>R		No	ClinGen ExAC TOPMed
CA18997284 rs751264434	15	G>W		No	ClinGen ExAC TOPMed
CA662982 rs151081875	18	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768858013 CA338851819	20	R>L		No	ClinGen ExAC TOPMed gnomAD
CA662980 rs768858013	20	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200906509 CA662981	20	R>W		No	ClinGen ExAC TOPMed gnomAD
CA662979 rs761263341	21	P>L		No	ClinGen ExAC gnomAD
CA662978 rs775917299	22	R>K		No	ClinGen ExAC gnomAD
CA338851791 rs1298706872	22	R>S		No	ClinGen TOPMed gnomAD
rs1446119740 CA338851708	25	T>N		No	ClinGen gnomAD
rs867816658 CA18997255	28	A>V		No	ClinGen Ensembl
CA338851601 rs1420855296	29	Q>H		No	ClinGen gnomAD
rs764532491 CA338851031 CA662963	31	V>L		No	ClinGen ExAC TOPMed gnomAD
CA18997057 rs764532491	31	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1270056124 CA338851011	32	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338851021 rs1374544589	32	G>S		No	ClinGen gnomAD
rs776041908 CA662960	35	P>H		No	ClinGen ExAC gnomAD
CA338850880 rs1385312377	39	L>P		No	ClinGen gnomAD
CA662958 rs759662535	41	T>I		No	ClinGen ExAC TOPMed gnomAD
CA662956 rs749548969	43	E>D		No	ClinGen ExAC TOPMed gnomAD
rs774386114 CA662957	43	E>K		No	ClinGen ExAC gnomAD
rs769640156 CA662953	45	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338850720 rs1196928966	46	W>*		No	ClinGen gnomAD
CA662951 rs199984518	48	V>A		No	ClinGen ExAC TOPMed gnomAD
CA662952 rs199984518	48	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1287069139 CA338850701	48	V>M		No	ClinGen gnomAD
rs1282297952 CA338850686	49	Q>*		No	ClinGen gnomAD
CA338850663 rs1293776029	51	Q>*		No	ClinGen TOPMed gnomAD
CA662948 rs779634683	54	A>T		No	ClinGen ExAC gnomAD
rs369598480 CA662947 COSM1338603	54	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA662945 rs764792415	55	L>P		No	ClinGen ExAC gnomAD
rs967650232 CA18996735	57	D>N		No	ClinGen TOPMed gnomAD
CA662920 rs377268600	58	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA662919 rs377268600	58	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA662918 rs750451477	58	C>Y		No	ClinGen ExAC gnomAD
CA338850285 rs1332626502	59	P>L		No	ClinGen TOPMed
rs762794952 CA662916	60	R>*		No	ClinGen ExAC TOPMed gnomAD
CA338850282 rs762794952	60	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1176180081 CA338850280	60	R>Q		No	ClinGen gnomAD
rs913380401 COSM1225555 CA18996721	61	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA662915 rs182578208	61	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA338850269 rs182578208	61	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs367729757 CA662913	62	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs367729757 CA662912	62	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs372597770 CA662914	62	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA662909 rs745423162 COSM1225558	64	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1468878382 CA338850227	66	L>Q		No	ClinGen TOPMed
CA662908 rs778318004	68	F>S		No	ClinGen ExAC TOPMed gnomAD
rs368115563 CA662907	70	L>P		No	ClinGen ESP ExAC gnomAD
rs1294250354 CA338850184	70	L>V		No	ClinGen gnomAD
rs748955141 CA662906	72	G>R		No	ClinGen ExAC gnomAD
CA662905 rs777343885	74	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	77	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA662903 rs751861789	78	G>R		No	ClinGen ExAC TOPMed gnomAD
CA662900 rs750889075	80	G>D		No	ClinGen ExAC gnomAD
CA662898 rs761914495	81	E>D		No	ClinGen ExAC gnomAD
CA338850077 rs1190200355	81	E>K		No	ClinGen gnomAD
CA18995991 rs764450538	82	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764450538 CA662878	82	V>M		No	ClinGen ExAC TOPMed gnomAD
rs756320915 CA662877	86	A>G		No	ClinGen ExAC gnomAD
TCGA novel	87	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752916913 CA662876	87	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA662874 rs759309812	89	L>V		No	ClinGen ExAC gnomAD
CA338850009 rs1170849419	90	R>M		No	ClinGen gnomAD
rs201137078 CA662873	91	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762503782 CA662872	91	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762503782 CA662871	91	R>L		No	ClinGen ExAC TOPMed gnomAD
rs201137078 CA18995967	91	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772682411 CA662870	92	I>V		No	ClinGen ExAC gnomAD
CA662869 rs570235329	93	L>P		No	ClinGen ExAC TOPMed gnomAD
rs776277626 CA662867	96	T>I		No	ClinGen ExAC gnomAD
CA338849977 rs1570507408	96	T>P		No	ClinGen Ensembl
rs1297882191 CA338849966	97	W>*		No	ClinGen TOPMed
CA338849953 rs1317500353	99	P>S		No	ClinGen gnomAD
CA338849949 rs1268661954	100	A>T		No	ClinGen gnomAD
CA662864 rs376947239	101	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA662863 rs762300630	102	C>*		No	ClinGen ExAC
CA338849933 rs1557617720	102	C>Y		No	ClinGen Ensembl
CA662862 rs757807423	103	Q>P		No	ClinGen ExAC gnomAD
CA338849913 rs1402419438	105	A>S		No	ClinGen gnomAD
rs749771908 CA662861	105	A>V		No	ClinGen ExAC gnomAD
CA338849898 rs1390633445	107	M>T		No	ClinGen TOPMed gnomAD
rs755966229 CA18995893	107	M>V		No	ClinGen Ensembl
CA662860 rs778022538	108	A>S		No	ClinGen ExAC gnomAD
CA338849886 rs1397622904	109	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs200675664 CA338849885	109	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200675664 CA662858	109	R>P		No	ClinGen ExAC TOPMed gnomAD
rs200675664 CA662859	109	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs971332586 CA18995873	110	N>D		No	ClinGen TOPMed
rs1570507240 CA338849882	110	N>T		No	ClinGen Ensembl
CA662856 rs754790200	111	P>L		No	ClinGen ExAC gnomAD
CA662857 rs767777430	111	P>S		No	ClinGen ExAC TOPMed gnomAD
CA662854 rs373170097	112	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762914116 CA662853	112	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA662855 rs373170097	112	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338849866 rs1457397104	113	S>I		No	ClinGen gnomAD
CA662852 rs764653827	113	S>R		No	ClinGen ExAC TOPMed gnomAD
CA338849867 rs1457397104	113	S>T		No	ClinGen gnomAD
rs994695707 CA18995863	114	P>L		No	ClinGen TOPMed
CA338849860 rs994695707	114	P>Q		No	ClinGen TOPMed
CA662850 rs761379820	118	L>I		No	ClinGen ExAC gnomAD
rs979145331 CA18995862	118	L>P		No	ClinGen TOPMed gnomAD
CA338849834 rs979145331	118	L>R		No	ClinGen TOPMed gnomAD
CA338849814 rs1570507128	121	H>P		No	ClinGen Ensembl
rs1264601963 CA338849793	124	V>L		No	ClinGen gnomAD
CA338849777 rs1243557968	126	S>R		No	ClinGen gnomAD
rs776202692 CA662849	127	Q>R		No	ClinGen ExAC gnomAD
CA662848 rs768331844	128	P>Q		No	ClinGen ExAC gnomAD
CA338849758 rs1570507081	129	G>V		No	ClinGen Ensembl
rs1277771487 CA338849751	130	E>D		No	ClinGen TOPMed
TCGA novel	131	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775225404 CA662829	132	Q>*		No	ClinGen ExAC gnomAD
rs1430485056 CA338849273	133	I>N		No	ClinGen gnomAD
CA662828 rs771428028	133	I>V		No	ClinGen ExAC gnomAD
rs374145412 CA662827	134	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA338849219 rs1570505478	135	H>P		No	ClinGen Ensembl
rs149579175 CA662826	135	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1415064836 CA338849200	136	L>V		No	ClinGen gnomAD
CA662825 rs770315535	137	L>P		No	ClinGen ExAC gnomAD
CA338849165 rs1478922719	138	L>M		No	ClinGen gnomAD
rs576868307 CA662823	140	R>C		No	ClinGen ExAC gnomAD
rs910588289 COSM1584017 COSM903408 CA18992098	140	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA338849096 rs1239089050	141	S>F		No	ClinGen gnomAD
rs1210753803 CA338849059	142	F>S		No	ClinGen gnomAD
rs768677097 CA662822	144	L>P		No	ClinGen ExAC gnomAD
rs760641945 CA662821	145	A>G		No	ClinGen ExAC TOPMed gnomAD
CA338849006 rs760641945	145	A>V		No	ClinGen ExAC TOPMed gnomAD
CA662820 rs185636102	149	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1570505397 CA338848900	150	H>P		No	ClinGen Ensembl
CA338848890 rs1277189371	151	P>A		No	ClinGen gnomAD
CA662818 rs750207854	152	E>K		No	ClinGen ExAC TOPMed gnomAD
CA338848881 rs750207854	152	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs201357087 CA662816	154	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778753450 CA662817	154	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	155	A>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449360747 CA338848790	155	A>S		No	ClinGen gnomAD
CA662815 rs367606814	156	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA338848780 rs1467260488	156	Q>R		No	ClinGen TOPMed gnomAD
CA338848736 rs1401218580	158	E>K		No	ClinGen gnomAD
CA662813 rs755619243	159	P>L		No	ClinGen ExAC gnomAD
rs763674031 CA662814	159	P>T		No	ClinGen ExAC gnomAD
CA338848662 rs1415664127	160	C>G		No	ClinGen gnomAD
rs1472421487 CA338848569	163	P>S		No	ClinGen gnomAD
CA662812 rs752464656	164	T>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA338848525 rs1179902699	165	G>R		No	ClinGen TOPMed gnomAD
CA662811 rs767266204	166	E>*		No	ClinGen ExAC gnomAD
rs1570505251 CA338848494	166	E>G		No	ClinGen Ensembl
rs763463081 CA662810	168	P>S		No	ClinGen ExAC TOPMed gnomAD
CA18992021 rs942014300	169	L>P		No	ClinGen TOPMed gnomAD
CA338848441 rs942014300	169	L>R		No	ClinGen TOPMed gnomAD
rs1570505211 CA338848443	169	L>V		No	ClinGen Ensembl
TCGA novel	171	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA662807 rs374975922	175	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA338848279 rs374975922	175	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1449031846 CA338848257	176	G>R		No	ClinGen gnomAD
CA338848206 rs1297728014	177	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA338848117 rs1440248193	179	V>L		No	ClinGen gnomAD
rs571453152 CA662801	180	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA662800 rs571453152	180	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368343115 CA662802	180	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs749253743 CA662798	182	P>L		No	ClinGen ExAC gnomAD
rs1440294300 CA338848056	182	P>T		No	ClinGen gnomAD
CA662797 rs755745800	183	F>L		No	ClinGen ExAC gnomAD
rs61745394 CA662795	184	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370767886 CA662794	185	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs368917315 CA662793	185	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA338847959 rs1359212570	186	D>N		No	ClinGen gnomAD
rs592060 CA338847916	187	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338847864 rs1157007563	189	S>F		No	ClinGen TOPMed
CA18991923 rs903812596	190	Q>E		No	ClinGen TOPMed gnomAD
rs201935883 CA662789	192	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201935883 CA662788	192	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM126144 rs1404060290 CA338847813	193	H>Y	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs764560070 CA662787	194	A>V		No	ClinGen ExAC gnomAD
rs775575933 CA662785	196	V>A		No	ClinGen ExAC TOPMed gnomAD
CA662783 rs746113939	198	F>I		No	ClinGen ExAC gnomAD
rs746113939 CA662784	198	F>V		No	ClinGen ExAC gnomAD
CA338847701 rs774369562	199	R>G		No	ClinGen ExAC TOPMed gnomAD
rs770826663 CA662781	199	R>P		No	ClinGen ExAC gnomAD
CA18991897 rs770826663	199	R>Q		No	ClinGen ExAC gnomAD
CA662782 rs774369562	199	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA662779 rs376043691	200	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs199520870 CA662780	200	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489746919 CA338847644	202	P>L		No	ClinGen gnomAD
CA338847650 rs1489746919	202	P>Q		No	ClinGen gnomAD
CA18991873 rs919248892	203	A>T		No	ClinGen TOPMed gnomAD
rs1488893910 CA338847569	206	L>P		No	ClinGen gnomAD
CA662777 rs202159375	207	V>G		No	ClinGen ExAC gnomAD
rs754393190 CA662775	209	S>G		No	ClinGen ExAC TOPMed gnomAD
rs779555671 CA662774	209	S>R		No	ClinGen ExAC gnomAD
rs562769813 CA662772	210	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA338847411 rs1324505669	211	K>R		No	ClinGen TOPMed
rs1467784181 CA338847367	214	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM3418705 COSM3418706 CA662746 rs753269375	216	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA338847256 rs1372838528	217	E>D		No	ClinGen TOPMed gnomAD
CA662745 rs767897307	218	G>D		No	ClinGen ExAC TOPMed gnomAD
CA662744 rs759712251	219	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA662743 rs41265079	219	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs942653425 CA338847208	220	A>P		No	ClinGen Ensembl
rs942653425 CA18991661	220	A>T		No	ClinGen Ensembl
rs369171247 CA662741 COSM364170	221	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs561031043 CA662740	221	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA662739 rs769720250	222	H>D		No	ClinGen ExAC gnomAD
CA662738 rs761683243	222	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs776754017 CA662737	223	A>T		No	ClinGen ExAC gnomAD
CA662736 rs768443098	224	R>C		No	ClinGen ExAC TOPMed gnomAD
CA662735 rs374646771	224	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA18991635 rs768443098	224	R>S		No	ClinGen ExAC TOPMed gnomAD
rs779451185 CA662734	225	L>V		No	ClinGen ExAC gnomAD
rs771552058 CA662733	228	P>S		No	ClinGen ExAC TOPMed gnomAD
CA338847015 rs1449776398	230	C>Y		No	ClinGen gnomAD
CA338846983 rs1378451617	231	S>L		No	ClinGen TOPMed gnomAD
rs371310268 CA662730	232	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200694409 CA662729	233	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459773073 CA338846903	236	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1265481 CA662726 COSM1265480 rs752062884	236	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1225556 CA18991557 COSM1225557 rs981411863	241	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA662724 rs766370454	241	R>H	Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA18991546 rs766370454	241	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1570504246 CA338846741	244	V>G		No	ClinGen Ensembl
CA662722 rs750728402	244	V>M		No	ClinGen ExAC TOPMed gnomAD
CA662721 rs374912533	246	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs761752861 CA662720 COSM247299	246	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs372520006 CA338846709	247	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs372520006 CA662719	247	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA338846697 rs1570504195	249	A>T		No	ClinGen Ensembl
CA18991472 rs1015162221	250	Y>C		No	ClinGen TOPMed gnomAD
rs771541402 CA662715	251	R>C		No	ClinGen ExAC gnomAD
COSM3689332 rs745377516 CA662714 COSM3689333	251	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745377516 CA338846653	251	R>L		No	ClinGen ExAC TOPMed gnomAD
rs865913047 CA18991439	252	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770547680 CA662712	252	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs865913047 CA338846641	252	G>V		No	ClinGen gnomAD
CA662709 rs781439575	254	T>I		No	ClinGen ExAC gnomAD
CA662708 rs755300920	255	Y>C		No	ClinGen ExAC gnomAD
CA338846587 rs1242165257	255	Y>H		No	ClinGen TOPMed
rs747481950 CA662707	256	E>K		No	ClinGen ExAC gnomAD
rs1480910985 CA338846512	258	Q>*		No	ClinGen gnomAD
CA662705 rs758595773	260	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA662703 rs765362118	262	S>L		No	ClinGen ExAC TOPMed gnomAD
CA338846398 rs1347951354	263	A>T		No	ClinGen gnomAD
CA662700 rs368532178	264	R>Q		No	ClinGen ESP ExAC gnomAD
rs752402973 CA662701	264	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1162078432	266	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387676556 CA338846315	266	A>S		No	ClinGen TOPMed
CA662698 rs760506888	266	A>V		No	ClinGen ExAC TOPMed gnomAD
CA662697 rs775357992	267	F>L		No	ClinGen ExAC gnomAD
CA662670 rs373920480	270	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA662669 rs373920480	270	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA662668 rs746393113	271	W>R		No	ClinGen ExAC gnomAD
rs534944238 CA18991055	272	E>K		No	ClinGen 1000Genomes
TCGA novel	274	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338845866 rs1453406892	274	W>R		No	ClinGen gnomAD
CA18991048 rs917897706	275	P>H		No	ClinGen Ensembl
CA662666 rs771203130	275	P>S		No	ClinGen ExAC TOPMed gnomAD
rs184773097 CA662665	276	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338845048 rs756379859	276	R>L		No	ClinGen ExAC gnomAD
CA662663 rs756379859	276	R>Q		No	ClinGen ExAC gnomAD
rs184773097 CA662664	276	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200502219 CA662661	277	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA18991020 rs1022284743	278	P>L		No	ClinGen TOPMed
rs1245821323 CA338845023	278	P>S		No	ClinGen TOPMed
TCGA novel	280	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754707626 CA662660	280	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA338844981 rs1164155004	281	H>Y		No	ClinGen gnomAD
rs751553158 CA662659	282	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1180035407 CA338844949	283	C>Y		No	ClinGen gnomAD
rs1570503097 CA338844907	285	V>G		No	ClinGen Ensembl
TCGA novel	287	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764616867 CA662655	288	E>*		No	ClinGen ExAC gnomAD
rs764616867 COSM3803784 COSM3803783 CA338844858	288	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA338844792 rs1372132095	290	S>C		No	ClinGen TOPMed
TCGA novel	290	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA662654 rs199605890	291	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA662653 rs368863175	292	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368863175 CA662652	292	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422600244 CA338844643	295	I>T		No	ClinGen TOPMed
rs778710399 CA662649	297	A>D		No	ClinGen ExAC gnomAD
CA662648 rs749709140	298	F>L		No	ClinGen ExAC gnomAD
rs748381061 CA662646	299	A>P		No	ClinGen ExAC TOPMed gnomAD
rs748381061 CA662645	299	A>T		No	ClinGen ExAC TOPMed gnomAD
CA338844544 rs1439685258	299	A>V		No	ClinGen TOPMed gnomAD
CA338844513 rs1367178478	301	I>N		No	ClinGen gnomAD
rs901564757 CA18990943	301	I>V		No	ClinGen TOPMed
CA338844470 rs1303610998	303	R>G		No	ClinGen gnomAD
rs766612133 CA662632	305	C>S		No	ClinGen ExAC gnomAD
rs61778525 CA18990626	306	A>P		No	ClinGen Ensembl
rs763518876 CA662631	307	L>P		No	ClinGen ExAC gnomAD
rs773533327 CA662630	308	A>G		No	ClinGen ExAC gnomAD
rs776874001 CA662627	310	L>V		No	ClinGen ExAC
rs747195208 CA662625	311	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA662626 rs535299474 COSM3943426 COSM3943427	311	R>W	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA662622 rs745878706	314	V>E		No	ClinGen ExAC gnomAD
rs758073632 CA18990596	314	V>L		No	ClinGen ExAC TOPMed gnomAD
CA662623 rs758073632	314	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1442526013 CA338844060	316	G>E		No	ClinGen TOPMed
CA338844049 rs1175287937	317	A>P		No	ClinGen gnomAD
rs763650474 CA662618	317	A>V		No	ClinGen ExAC TOPMed gnomAD
CA662616 rs752329729	324	L>P		No	ClinGen ExAC gnomAD
CA662615 rs766777960	325	G>A		No	ClinGen ExAC gnomAD
CA338843898 rs1479085379	326	A>T		No	ClinGen gnomAD
CA662613 rs751002858	328	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1252843277 CA338843843	329	Q>R		No	ClinGen gnomAD
rs1227901433 CA338843808	330	W>L		No	ClinGen gnomAD
rs201291581 CA338843742	334	V>L		No	ClinGen ExAC TOPMed gnomAD
CA662608 rs201291581	334	V>M		No	ClinGen ExAC TOPMed gnomAD
rs760903091 CA662607	335	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA662606 rs200472543	335	R>H		No	ClinGen ExAC TOPMed gnomAD
CA662605 rs570258515	336	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA18990508 rs77382254	337	Q>H		No	ClinGen Ensembl
rs771015433 CA662603	338	C>*		No	ClinGen ExAC TOPMed gnomAD
CA338843662 rs1300197018	338	C>R		No	ClinGen gnomAD
CA18990507 rs753803657	338	C>Y		No	ClinGen Ensembl
CA662601 rs779774721	339	G>C		No	ClinGen ExAC TOPMed gnomAD
CA662600 rs779774721	339	G>S		No	ClinGen ExAC TOPMed gnomAD
CA18990485 rs948666008	340	V>A		No	ClinGen Ensembl
rs1447019847 CA338843620	340	V>L		No	ClinGen gnomAD
rs1447019847 CA338843630	340	V>M		No	ClinGen gnomAD
CA338843599 rs1385939058	341	V>E		No	ClinGen gnomAD
CA662598 rs752451134	342	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	344	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18990469 rs992733871	345	V>G		No	ClinGen Ensembl
CA18990466 rs1021303147	346	F>S		No	ClinGen TOPMed
CA662596 rs758835426	347	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780700859 CA662597	347	R>W		No	ClinGen ExAC gnomAD
COSM1338596 rs750727956 COSM1338597 CA662595	352	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA662594 rs376876214	352	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA338843313 rs1407609423	353	Y>C		No	ClinGen TOPMed
CA18990434 rs978187180	353	Y>H		No	ClinGen Ensembl
CA338843231 rs1313715150	355	L>F		No	ClinGen TOPMed gnomAD
CA338843213 rs1274123617	356	E>K		No	ClinGen gnomAD
CA662569 rs759680472	357	H>N		No	ClinGen ExAC gnomAD
CA338842953 rs1570500553	357	H>P		No	ClinGen Ensembl
CA662568 rs774574484	357	H>Q		No	ClinGen ExAC gnomAD
rs200339342 CA662567	359	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200339342 CA18990031	359	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA662565 rs769830510	360	A>E		No	ClinGen ExAC gnomAD
rs769830510 COSM323302 CA662564	360	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1324686559 CA338842855	362	F>L		No	ClinGen gnomAD
CA338842868 rs1264649100	362	F>L		No	ClinGen gnomAD
CA662563 rs199676451	362	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA662561 rs768158317	364	S>R		No	ClinGen ExAC gnomAD
rs746701506 CA662560	367	A>T		No	ClinGen ExAC gnomAD
TCGA novel	370	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18989995 rs1027127948	372	H>N		No	ClinGen Ensembl
rs749632362 CA662557	373	A>T		No	ClinGen ExAC TOPMed gnomAD
CA662556 rs201560600	373	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	374	V>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476320140 CA338842575	375	T>S		No	ClinGen gnomAD
CA338842552 rs202199124	376	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	377	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA662553 rs767506435	377	R>H		No	ClinGen ExAC gnomAD
rs924979252 CA18989986	379	L>P		No	ClinGen TOPMed gnomAD
CA338842385 rs1278344525	384	D>G		No	ClinGen gnomAD
CA662551 rs751895957	384	D>N		No	ClinGen ExAC gnomAD
CA18989983 rs964034761	385	M>I		No	ClinGen TOPMed
rs1217846477 CA338842354	385	M>L		No	ClinGen gnomAD
CA338842357 rs1217846477	385	M>V		No	ClinGen gnomAD
rs766676373 CA662550	386	G>S		No	ClinGen ExAC gnomAD
rs762887332 CA662549	387	R>C		No	ClinGen ExAC gnomAD
rs1298323992 CA338842286	387	R>H		No	ClinGen TOPMed gnomAD
CA338842222 rs1363082171	389	N>K		No	ClinGen gnomAD
rs1570500266 CA338842235	389	N>T		No	ClinGen Ensembl
rs1168013659 CA338842183	391	T>N		No	ClinGen TOPMed
CA18989976 rs373331417	393	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs761658101 CA662546	394	E>K		No	ClinGen ExAC gnomAD
rs768122081 CA662544	395	Q>*		No	ClinGen ExAC gnomAD
CA18989954 rs902838439	395	Q>P		No	ClinGen gnomAD
CA338842009 rs1167236402	397	C>R		No	ClinGen gnomAD
CA338841935 rs1570500185	399	P>L		No	ClinGen Ensembl
CA662543 rs746499995	399	P>S		No	ClinGen ExAC gnomAD
CA338841953 rs746499995	399	P>T		No	ClinGen ExAC gnomAD
rs1386550189 CA338841922	400	P>L		No	ClinGen gnomAD
TCGA novel	400	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	401	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775172865 CA662542	402	R>S		No	ClinGen ExAC gnomAD
rs771735243 CA662541	403	P>L		No	ClinGen ExAC TOPMed gnomAD
CA662538 rs368970937	405	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs781720470 CA662536	405	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs368970937 CA662537	405	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA338841777 rs1570500116	406	T>P		No	ClinGen Ensembl
rs755052590 CA662535	407	L>P		No	ClinGen ExAC gnomAD
CA338841715 rs1317180837	408	R>Q		No	ClinGen TOPMed gnomAD
rs751663789 CA662534	408	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1378671859 CA338841646	410	L>H		No	ClinGen gnomAD
CA338841521 rs1444694077	413	A>D		No	ClinGen gnomAD
rs758722691 CA662532	414	K>N		No	ClinGen ExAC TOPMed gnomAD
CA662529 rs761666159	416	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	419	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338841218 rs1163593571	421	G>D		No	ClinGen gnomAD
rs1349765435 CA338841248	421	G>S		No	ClinGen TOPMed

No associated diseases with Q6ZV89

2 regional properties for Q6ZV89

Type	Name	Position	InterPro Accession
binding_site	Serine hydroxymethyltransferase, pyridoxal phosphate binding site	265 - 281	IPR019798
domain	Serine hydroxymethyltransferase-like domain	42 - 440	IPR039429

Functions

		Description
EC Number
Subcellular Localization	Postsynaptic density
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MQKAGAGGRR	ASDCGLAPHR	PRCITKFAQY	VGSFPVDDLD	TQESVWLVQQ	QLWALKDCPR
70	80	90	100	110	120
RRAVILKFSL	QGLKIYSGEG	EVLLMAHALR	RILYSTWCPA	DCQFAFMARN	PRSPASKLFC
130	140	150	160	170	180
HLFVGSQPGE	VQILHLLLCR	SFQLAYLLQH	PEERAQPEPC	PGPTGEVPLK	PLSSSGGLVR
190	200	210	220	230	240
EPFGRDQLSQ	NVHALVSFRR	LPAEGLVGSG	KELPESEGRA	RHARLGNPYC	SPTLVRKKAI
250	260	270	280	290	300
RSKVIRSGAY	RGCTYETQLQ	LSAREAFPAA	WEAWPRGPGG	HSCLVESEGS	LTENIWAFAG
310	320	330	340	350	360
ISRPCALALL	RRDVLGAFLL	WPELGASGQW	CLSVRTQCGV	VPHQVFRNHL	GRYCLEHLPA
370	380	390	400	410	420
EFPSLEALVE	NHAVTERSLF	CPLDMGRLNP	TYEEQDCGPP	GRPPRTLRPL	SHAKSEAELQ

GLG