AiPD: Autoinhibited Protein Database

Q13613

Gene name	MTMR1
Protein name	Myotubularin-related protein 1
Names	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8776
EC number	3.1.3.64: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-77 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-77 (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

2 structures for Q13613

Entry ID	Method	Resolution	Chain	Position	Source
5C16	X-ray	207 A	A/B/C/D	95-665	PDB
AF-Q13613-F1	Predicted				AlphaFoldDB

284 variants for Q13613

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA415023580 rs1476822944	5	A>V		No	ClinGen TOPMed
CA415023588 rs1557415627	6	A>V		No	ClinGen gnomAD
CA415023592 rs1448298722	7	A>E		No	ClinGen TOPMed gnomAD
TCGA novel	8	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246741092 CA415023596	8	A>S		No	ClinGen TOPMed
rs1278354915 CA415023635	14	G>S		No	ClinGen TOPMed gnomAD
rs1198986972 CA415023643	15	G>C		No	ClinGen TOPMed
CA415023646 rs1603220828	15	G>V		No	ClinGen Ensembl
CA415023648 rs1557415630	16	G>R		No	ClinGen gnomAD
CA415023660 rs1275608657	18	P>A		No	ClinGen TOPMed gnomAD
CA415023661 rs1275608657	18	P>S		No	ClinGen TOPMed gnomAD
CA415023710 rs1345614651	26	R>W		No	ClinGen TOPMed
TCGA novel	29	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415023736 rs1412495806	30	R>W		No	ClinGen TOPMed
rs1403946509 CA415023750	32	A>V		No	ClinGen TOPMed
CA415023752 rs1603220923	33	G>R		No	ClinGen Ensembl
CA415023778 rs1191125670	37	A>T		No	ClinGen TOPMed gnomAD
rs1185892997 CA415023796	40	R>Q		No	ClinGen TOPMed
CA415023795 rs1557415635	40	R>W		No	ClinGen gnomAD
CA415023799 rs1444446681	41	Q>K		No	ClinGen TOPMed
rs1279603249 CA415023812	42	P>L		No	ClinGen TOPMed gnomAD
rs1204624569 CA415023818	43	S>N		No	ClinGen TOPMed gnomAD
CA415023840 rs1340218384	46	T>N		No	ClinGen TOPMed gnomAD
CA10539349 rs782264204	53	S>L		No	ClinGen ExAC TOPMed gnomAD
CA415024016 rs1216497891	70	I>N		No	ClinGen TOPMed
rs1352088888 CA415024032	73	S>T		No	ClinGen TOPMed gnomAD
rs1603228968 CA415024052	76	S>P		No	ClinGen Ensembl
CA10539350 rs782165251	78	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415024074 rs1557415846	79	V>A		No	ClinGen gnomAD
rs782027425 CA10539351	83	Y>D		No	ClinGen ExAC gnomAD
rs782703141 CA10539386	85	A>G		No	ClinGen ExAC TOPMed gnomAD
CA415024429 rs1227300702	88	D>G		No	ClinGen TOPMed
TCGA novel	94	Q>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs5970466 CA10539388	97	E>D		No	ClinGen ESP ExAC TOPMed
CA415024506 rs868937136	99	P>S		No	ClinGen Ensembl
CA415024524 rs1290826355	102	P>S		No	ClinGen TOPMed
rs781854612 CA10539390	106	I>V		No	ClinGen ExAC gnomAD
TCGA novel	108	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415024571 rs1330975577	109	I>V		No	ClinGen TOPMed
rs782819029 CA10539406	111	K>E		No	ClinGen ExAC gnomAD
CA336168571 rs376319087	111	K>R		No	ClinGen ESP TOPMed gnomAD
rs370265905 CA10539408	114	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10539407 rs781885501	114	M>V		No	ClinGen ExAC gnomAD
rs1557416805 CA415024654	119	F>Y		No	ClinGen gnomAD
TCGA novel	124	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10539409 rs782693596	124	S>N		No	ClinGen ExAC gnomAD
rs782524669 CA10539411	126	T>I		No	ClinGen ExAC gnomAD
CA336168582 rs782632211	129	V>L		No	ClinGen ExAC gnomAD
rs782632211 CA10539412	129	V>M		No	ClinGen ExAC gnomAD
rs781910559 CA10539413	130	T>M		No	ClinGen ExAC gnomAD
TCGA novel	131	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA336168592 rs928932956	139	V>I		No	ClinGen Ensembl
CA415024791 rs1557416810	140	E>Q		No	ClinGen gnomAD
TCGA novel	142	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468503241 CA415024830	143	P>L		No	ClinGen TOPMed gnomAD
rs1490102162 CA415024851	146	I>N		No	ClinGen TOPMed
CA10539435 rs138576798	146	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782524845 CA10539437	148	D>G		No	ClinGen ExAC gnomAD
rs782629914 CA10539438	156	R>K		No	ClinGen ExAC gnomAD
TCGA novel	157	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs797032848 CA415024938	159	K>N		No	ClinGen gnomAD
TCGA novel	159	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415024955 rs1557416831	162	A>E		No	ClinGen gnomAD
CA415024953 rs1557416830	162	A>P		No	ClinGen gnomAD
CA415024965 rs1557416832	163	Q>H		No	ClinGen gnomAD
CA415024969 rs1557416834	164	S>N		No	ClinGen gnomAD
TCGA novel rs1289136237 CA415024973	164	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs1321810419 CA415024985	166	G>A		No	ClinGen TOPMed
rs782295379 CA10539439	166	G>R		No	ClinGen ExAC TOPMed gnomAD
rs958959030 CA336168663	170	C>Y		No	ClinGen Ensembl
CA415025092 rs1557416915	179	M>I		No	ClinGen gnomAD
CA415025099 rs1557416916	180	R>K		No	ClinGen gnomAD
CA415025118 rs1464370448	183	R>Q		No	ClinGen TOPMed
CA10539457 rs782441782	183	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782602311 CA10539458	185	A>S		No	ClinGen ExAC gnomAD
CA415025197 rs1329520700	194	L>V		No	ClinGen TOPMed
CA415025203 rs1557416918	195	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10539460 rs782507617	195	G>R		No	ClinGen ExAC gnomAD
CA10539462 rs782286686	196	I>M		No	ClinGen ExAC gnomAD
rs1557416919 CA415025207	196	I>V		No	ClinGen gnomAD
CA415025226 rs1557416921	198	E>D		No	ClinGen gnomAD
TCGA novel	202	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10539464 rs781929325	203	H>R		No	ClinGen ExAC gnomAD
TCGA novel	204	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10539466 rs782343307	207	L>F		No	ClinGen ExAC gnomAD
rs782117264 CA10539468	210	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA415025329 rs1557416953	212	A>T		No	ClinGen gnomAD
rs1557416954 CA415025345	214	F>C		No	ClinGen gnomAD
TCGA novel	215	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	216	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA336168968 rs566113530	217	S>N		No	ClinGen Ensembl
TCGA novel	217	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782550632 CA10539477	218	Y>H		No	ClinGen ExAC gnomAD
rs137974769 CA10539479	224	I>V		No	ClinGen ESP ExAC
CA10539480 rs782487202	225	N>K		No	ClinGen ExAC gnomAD
rs782603841 CA10539481	226	G>A		No	ClinGen ExAC gnomAD
rs371653998 CA10539482	228	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371653998 CA10539483	228	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415025442 rs1557416956	228	K>R		No	ClinGen gnomAD
CA10539484 rs782686967	229	V>G		No	ClinGen ExAC
rs782271443 CA10539485	230	Y>F		No	ClinGen ExAC
CA415025465 rs1416438187	231	D>E		No	ClinGen TOPMed gnomAD
CA10539486 rs782336157	232	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10539487 rs781963723	233	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA415025499 rs1557416958	237	K>Q		No	ClinGen gnomAD
TCGA novel	246	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	248	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415025608 rs1557416989	250	K>Q		No	ClinGen gnomAD
TCGA novel	251	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	254	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	257	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	258	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415025695 rs1557416991	261	Y>S		No	ClinGen gnomAD
TCGA novel	262	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557416992 CA415025706	263	A>T		No	ClinGen gnomAD
CA415025720 rs1557416994	265	I>V		No	ClinGen gnomAD
rs782542432 CA10539501	271	V>I		No	ClinGen ExAC gnomAD
TCGA novel	272	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782574499 CA10539502	273	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA10539503 rs782171130	278	K>T		No	ClinGen ExAC gnomAD
CA10539504 rs371987799	280	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	283	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377156950 CA10539506	284	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA415025876 rs782029024	289	P>A		No	ClinGen ExAC TOPMed gnomAD
CA10539508 rs782029024	289	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	289	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415025894 rs868993041	290	V>L		No	ClinGen TOPMed gnomAD
rs868993041 CA415025892	290	V>M		No	ClinGen TOPMed gnomAD
CA10539518 rs781798790	291	L>S		No	ClinGen ExAC gnomAD
rs782752989 CA10539520	297	E>G		No	ClinGen ExAC gnomAD
COSM75477 CA415025974 rs1486439252	301	T>M	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA415025990 rs1257683690	304	R>C		No	ClinGen TOPMed
rs781820813 CA10539521	304	R>H		No	ClinGen ExAC gnomAD
CA10539522 rs782520669	313	N>S		No	ClinGen ExAC gnomAD
rs1013831689 CA336169218	316	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs147199342 CA10539524	316	R>H		No	ClinGen ESP ExAC gnomAD
rs147199342 CA10539525	316	R>L		No	ClinGen ESP ExAC gnomAD
rs782563617 CA10539526	317	C>G		No	ClinGen ExAC gnomAD
rs782229047 CA10539527	318	K>E		No	ClinGen ExAC gnomAD
rs782338514 CA10539528	320	D>A		No	ClinGen ExAC
CA10539529 rs782008913	323	Y>C		No	ClinGen ExAC gnomAD
rs1603256827 CA415026141	326	T>A		No	ClinGen Ensembl
CA336169226 rs969567652	327	I>V		No	ClinGen TOPMed gnomAD
CA415026177 rs1557417033	331	N>D		No	ClinGen gnomAD
TCGA novel	333	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782425336 CA10539531	340	F>L		No	ClinGen ExAC
rs1557417036 CA415026278	345	N>T		No	ClinGen gnomAD
CA336169231 rs868979205	346	S>N		No	ClinGen TOPMed
rs782211988 CA336169233	347	V>A		No	ClinGen TOPMed gnomAD
CA10539534 rs782700774	348	A>G		No	ClinGen ExAC gnomAD
CA336169238 rs782401700	351	N>S		No	ClinGen TOPMed gnomAD
rs782363162 CA336174409	358	Y>C		No	ClinGen Ensembl
TCGA novel	360	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782322905 CA10539550	363	A>S		No	ClinGen ExAC gnomAD
CA415026566 rs1557417169	371	F>L		No	ClinGen gnomAD
CA10539552 rs140499491	375	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10539554 rs782001346	380	M>I		No	ClinGen ExAC gnomAD
CA10539556 rs375654968	385	R>L		No	ClinGen ESP ExAC gnomAD
rs782017393 CA415026694	390	I>L		No	ClinGen ExAC gnomAD
rs782055753 CA10539558	390	I>T		No	ClinGen ExAC gnomAD
rs782017393 CA10539557	390	I>V		No	ClinGen ExAC gnomAD
rs1557417172 CA415026701	391	V>L		No	ClinGen gnomAD
rs782748165 COSM1116811 CA10539559	394	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782129470 CA415026730	395	I>M		No	ClinGen ExAC TOPMed gnomAD
rs990248555 CA336174424	396	D>H		No	ClinGen TOPMed gnomAD
CA415026731 rs990248555	396	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA415026749 rs1357005805	398	A>E		No	ClinGen TOPMed gnomAD
CA415026751 rs1357005805	398	A>V		No	ClinGen TOPMed gnomAD
rs782762145 CA10539562	399	R>Q	Variant assessed as Somatic; 6.278e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	399	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	400	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10539563 rs372824416	403	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1414738220 CA415026781	403	N>S		No	ClinGen TOPMed
CA10539564 rs782533768	404	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	407	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415026806 rs1557417178	407	T>M		No	ClinGen gnomAD
CA415026829 rs1557417181	410	L>P		No	ClinGen gnomAD
rs946112768 CA336174433	413	I>L		No	ClinGen gnomAD
rs946112768 CA415026848	413	I>V		No	ClinGen gnomAD
rs1557417206 CA415026880	415	M>I		No	ClinGen gnomAD
rs868995585 CA415026887	417	L>F		No	ClinGen Ensembl
rs782166693 CA10539580	418	A>T		No	ClinGen ExAC gnomAD
TCGA novel	422	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10539582 rs781810751	427	I>M		No	ClinGen ExAC gnomAD
CA336174492 rs967989748	430	G>A		No	ClinGen Ensembl
CA10539583 rs782045268	435	V>L		No	ClinGen ExAC gnomAD
CA415027036 rs782741204	439	S>R		No	ClinGen ExAC gnomAD
CA10539585 rs781817249	440	D>N		No	ClinGen ExAC gnomAD
CA415027044 rs1384872069	441	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	444	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415027079 rs367683804	446	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10539587 rs367683804	446	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA415027102 rs1557417212	449	T>I		No	ClinGen gnomAD
rs781901772 CA10539588	453	M>I		No	ClinGen ExAC TOPMed gnomAD
rs372190631 CA10539590	454	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156972333 CA415027136	455	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	459	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	466	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1569565722 CA415027242	470	V>I		No	ClinGen Ensembl
TCGA novel	479	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	482	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415027370 rs1557417392	485	V>A		No	ClinGen gnomAD
TCGA novel	487	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782447692 CA10539607	488	G>D		No	ClinGen ExAC gnomAD
rs184040491 CA10539608	489	N>K		No	ClinGen 1000Genomes ExAC
rs1455832865 CA415027426	493	A>V		No	ClinGen TOPMed
rs1557417398 CA415027502	505	V>I		No	ClinGen gnomAD
rs1557417399 CA415027517	507	C>G		No	ClinGen gnomAD
CA415027524 rs1396104018	508	V>I		No	ClinGen TOPMed
CA415027531 rs1557417402	509	W>R		No	ClinGen gnomAD
rs190778551 CA10539617	517	S>L		No	ClinGen 1000Genomes ExAC
TCGA novel	518	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781992987 CA10539618	530	L>S		No	ClinGen ExAC gnomAD
TCGA novel	533	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782817564 CA336175960	536	C>R		No	ClinGen Ensembl
rs34208120	538	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782236728 CA415027768	540	T>N		No	ClinGen ExAC gnomAD
CA10539619 rs782236728	540	T>S		No	ClinGen ExAC gnomAD
rs370195600 CA10539620	544	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10539621 rs782018043	549	R>*		No	ClinGen ExAC gnomAD
CA10539622 rs782065013	549	R>Q		No	ClinGen ExAC gnomAD
CA415027841 rs1557417572	550	F>L		No	ClinGen TOPMed
CA10539623 rs782697802	550	F>L		No	ClinGen ExAC gnomAD
rs1557417726 CA415027875	553	D>G		No	ClinGen gnomAD
CA415027882 rs1449040618	554	V>L		No	ClinGen TOPMed
CA415027906 rs1246456989	557	K>N		No	ClinGen TOPMed
rs782769256 CA10539651	557	K>R		No	ClinGen ExAC gnomAD
CA415027919 rs1557417729	559	I>M		No	ClinGen gnomAD
rs1447955319 CA415027945 COSM206013	563	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA10539654 rs782576435	565	I>T		No	ClinGen ExAC gnomAD
CA336176484 rs989305299	566	N>S		No	ClinGen TOPMed gnomAD
rs1199243931 CA415027964	566	N>Y		No	ClinGen TOPMed gnomAD
CA415027976 rs1280353417	567	S>R		No	ClinGen TOPMed
rs1227066470 CA415027983	568	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10539657 rs782654606	571	E>D		No	ClinGen ExAC TOPMed gnomAD
rs368905816 CA10539658	575	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA415028049 rs782416631	578	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782416631 CA10539659	578	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10539660 rs782676538	584	V>G		No	ClinGen ExAC
CA336176492 COSM1116816 rs782208970	584	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
rs1557417737 CA415028172	590	S>R		No	ClinGen gnomAD
CA10539662 rs200094826	591	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA415028189 rs1402851207	592	S>N		No	ClinGen TOPMed
rs1557417738 CA415028222	595	E>Q		No	ClinGen gnomAD
CA415028264 rs1557417739	598	V>I		No	ClinGen gnomAD
rs1557417741 CA415028331	603	R>Q		No	ClinGen gnomAD
CA415028373 rs1557417743	607	R>Q		No	ClinGen gnomAD
rs372859522 CA10539665	607	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557418071 CA415029106	619	K>E		No	ClinGen gnomAD
rs1569565785 CA415029116	620	E>A		No	ClinGen Ensembl
CA10539671 rs782780485	620	E>K		No	ClinGen ExAC gnomAD
CA415029153 rs201825888	624	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201825888 CA10539676	624	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1361834436 CA415029173	626	A>T		No	ClinGen TOPMed
CA415029242 rs1557418082	631	R>H		No	ClinGen gnomAD
TCGA novel	632	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415029268 rs1388736465	633	E>D		No	ClinGen TOPMed gnomAD
CA10539678 rs781892775	633	E>Q		No	ClinGen ExAC gnomAD
CA10539681 rs782234684	637	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs782567674 CA10539680	637	R>W		No	ClinGen ExAC gnomAD
CA415029325 rs1360585990	638	E>D		No	ClinGen TOPMed
rs1557418091 CA415029347	640	A>G		No	ClinGen gnomAD
CA415029359 rs782468777	641	T>K		No	ClinGen ExAC TOPMed gnomAD
CA10539682 rs782468777	641	T>M		No	ClinGen ExAC TOPMed gnomAD
CA415029357 rs782468777	641	T>R		No	ClinGen ExAC TOPMed gnomAD
CA10539683 rs782644695	642	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200100741 CA10539684	642	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM1116818 CA10539687 rs782190699	643	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10539689 rs141312913	644	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	645	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781817591 CA10539691	647	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415029455 rs1313706639	650	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10539693 rs373536793	650	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs782717015 CA10539694	651	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1557418108 CA415029505	654	P>L		No	ClinGen gnomAD
rs781875651 CA415029551	658	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781875651 CA10539699	658	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1430362682 CA415029571	660	S>A		No	ClinGen TOPMed
CA10539701 rs77346702	661	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10539702 rs782277072	662	H>R		No	ClinGen ExAC gnomAD
CA415029594 rs1557418115	662	H>Y		No	ClinGen gnomAD
rs782289648 CA10539704	664	S>L		No	ClinGen ExAC TOPMed gnomAD
rs782451221 CA10539703	664	S>T		No	ClinGen ExAC gnomAD
CA337094702 rs554654116	666	V>W		No	ClinGen Ensembl

No associated diseases with Q13613

3 regional properties for Q13613

Type	Name	Position	InterPro Accession
domain	Intermediate filament head, DNA-binding domain	9 - 105	IPR006821
conserved_site	Intermediate filament protein, conserved site	401 - 409	IPR018039
domain	Intermediate filament, rod domain	106 - 415	IPR039008

Functions

		Description
EC Number	3.1.3.64	Phosphoric monoester hydrolases
Subcellular Localization	Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.
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
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate + 2 H+.
phosphatidylinositol-3-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

3 GO annotations of biological process

Name	Definition
phosphatidylinositol biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol dephosphorylation	The process of removing one or more phosphate groups from a phosphatidylinositol.
regulation of phosphatidylinositol dephosphorylation	Any process that modulates the frequency, rate or extent of the chemical reaction involving the removal of one or more phosphate groups from a phosphatidylinositol.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q86WG5	SBF2	Myotubularin-related protein 13	Homo sapiens (Human)	PR
O95248	SBF1	Myotubularin-related protein 5	Homo sapiens (Human)	PR
Q13496	MTM1	Myotubularin	Homo sapiens (Human)	PR
Q13614	MTMR2	Myotubularin-related protein 2	Homo sapiens (Human)	PR
Q96QG7	MTMR9	Myotubularin-related protein 9	Homo sapiens (Human)	PR
Q9Y217	MTMR6	Myotubularin-related protein 6	Homo sapiens (Human)	PR
Q9Y216	MTMR7	Myotubularin-related protein 7	Homo sapiens (Human)	PR
Q9Z2C4	Mtmr1	Myotubularin-related protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDRPAAAAAA	GCEGGGGPNP	GPAGGRRPPR	AAGGATAGSR	QPSVETLDSP	TGSHVEWCKQ
70	80	90	100	110	120
LIAATISSQI	SGSVTSENVS	RDYKALRDGN	KLAQMEEAPL	FPGESIKAIV	KDVMYICPFM
130	140	150	160	170	180
GAVSGTLTVT	DFKLYFKNVE	RDPHFILDVP	LGVISRVEKI	GAQSHGDNSC	GIEIVCKDMR
190	200	210	220	230	240
NLRLAYKQEE	QSKLGIFENL	NKHAFPLSNG	QALFAFSYKE	KFPINGWKVY	DPVSEYKRQG
250	260	270	280	290	300
LPNESWKISK	INSNYEFCDT	YPAIIVVPTS	VKDDDLSKVA	AFRAKGRVPV	LSWIHPESQA
310	320	330	340	350	360
TITRCSQPLV	GPNDKRCKED	EKYLQTIMDA	NAQSHKLIIF	DARQNSVADT	NKTKGGGYES
370	380	390	400	410	420
ESAYPNAELV	FLEIHNIHVM	RESLRKLKEI	VYPSIDEARW	LSNVDGTHWL	EYIRMLLAGA
430	440	450	460	470	480
VRIADKIESG	KTSVVVHCSD	GWDRTAQLTS	LAMLMLDSYY	RTIKGFETLV	EKEWISFGHR
490	500	510	520	530	540
FALRVGHGND	NHADADRSPI	FLQFVDCVWQ	MTRQFPSAFE	FNELFLITIL	DHLYSCLFGT
550	560	570	580	590	600
FLCNCEQQRF	KEDVYTKTIS	LWSYINSQLD	EFSNPFFVNY	ENHVLYPVAS	LSHLELWVNY
610	620	630	640	650	660
YVRWNPRMRP	QMPIHQNLKE	LLAVRAELQK	RVEGLQREVA	TRAVSSSSER	GSSPSHSATS

VHTSV