AiPD: Autoinhibited Protein Database

Q93088

Gene name	BHMT
Protein name	Betaine--homocysteine S-methyltransferase 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:635
EC number	2.1.1.5: Methyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

336-406 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

336-406 (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

5 structures for Q93088

Entry ID	Method	Resolution	Chain	Position	Source
1LT7	X-ray	215 A	A/B	1-406	PDB
1LT8	X-ray	205 A	A/B	1-406	PDB
4M3P	X-ray	190 A	A/B/C/D	1-406	PDB
8D45	EM	262 A	A/B/C/D	1-406	PDB
AF-Q93088-F1	Predicted				AlphaFoldDB

369 variants for Q93088

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA360197767 rs368937011	2	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3319435 rs368937011	2	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3319436 rs368937011	2	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA360197780 rs1298360828	4	V>A		No	ClinGen gnomAD
rs746214231 CA121135813	4	V>F		No	ClinGen gnomAD
rs746214231 CA360197777	4	V>I		No	ClinGen gnomAD
CA360197785 rs768147946	5	G>A		No	ClinGen ExAC gnomAD
CA3319441 rs768147946	5	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs866217496 CA121135820	6	G>D		No	ClinGen Ensembl
CA360197787 rs1282790212	6	G>S		No	ClinGen gnomAD
CA3319443 rs773865447	7	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1297587918 CA360197804	8	K>M		No	ClinGen TOPMed
CA3319444 rs762260588	9	A>P		No	ClinGen ExAC
rs772598629 CA3319445	10	K>Q		No	ClinGen ExAC gnomAD
CA360197815 rs1367836804	10	K>R		No	ClinGen TOPMed
CA360197825 rs773534531	11	K>N		No	ClinGen ExAC TOPMed gnomAD
CA360199190 rs1027095099	12	G>D		No	ClinGen TOPMed gnomAD
CA121136969 rs1027095099	12	G>V		No	ClinGen TOPMed gnomAD
rs56709544 CA3319460	16	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372541519 CA3319461	16	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA3319462 rs372541519	16	R>L		No	ClinGen ESP ExAC gnomAD
rs372541519 CA360199237	16	R>P		No	ClinGen ESP ExAC gnomAD
rs985513424 CA121136979	17	L>S		No	ClinGen TOPMed
CA360199241 rs1561252171	17	L>V		No	ClinGen Ensembl
rs772543723 CA3319463	19	A>T		No	ClinGen ExAC TOPMed gnomAD
CA360199283 rs1424918956	20	G>E		No	ClinGen gnomAD
CA3319464 rs773765369	22	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3319465 rs747327020	24	I>T		No	ClinGen ExAC TOPMed gnomAD
CA360199345 rs1398788417	25	G>E		No	ClinGen gnomAD
TCGA novel	25	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA121136988 rs376343021	26	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA3319468 rs528235368	28	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs765599787 CA3319469	30	V>F		No	ClinGen ExAC gnomAD
rs1181025980 CA360199422	31	F>S		No	ClinGen TOPMed
rs775693955 CA3319470	32	A>V		No	ClinGen ExAC gnomAD
rs1225187926 CA360199444	33	L>M		No	ClinGen gnomAD
CA3319472 rs369885790	34	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422170944 CA360199452	34	E>K		No	ClinGen gnomAD
rs1317277472 CA360199468	35	K>E		No	ClinGen gnomAD
rs1164290837 CA360199498	37	G>R		No	ClinGen gnomAD
rs373553877 CA360199515	38	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs766149888 CA3319475	39	V>I		No	ClinGen ExAC TOPMed gnomAD
CA360199522 rs766149888	39	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	40	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753607977 CA3319477	41	A>P		No	ClinGen ExAC gnomAD
CA3319476 rs753607977	41	A>T		No	ClinGen ExAC gnomAD
rs778585214 CA3319478	41	A>V		No	ClinGen ExAC gnomAD
CA121137013 rs953600240	43	P>H		No	ClinGen gnomAD
CA360199570 rs953600240	43	P>L		No	ClinGen gnomAD
CA3319480 rs757968469	47	E>D		No	ClinGen ExAC gnomAD
TCGA novel	49	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3319483 rs747489317	52	H>Y		No	ClinGen ExAC gnomAD
rs1398745159 CA360199728	55	A>T		No	ClinGen gnomAD
rs372610894 CA3319515 COSM1070388	57	R>C	Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs147391267 COSM3429671 CA3319517	57	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs147391267 CA3319516	57	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA360200641 rs1446464248	58	Q>H		No	ClinGen gnomAD
rs537874141 CA3319518	60	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3319519 rs780760620	61	R>*		No	ClinGen ExAC TOPMed gnomAD
CA360200675 rs780760620	61	R>G		No	ClinGen ExAC TOPMed gnomAD
rs370702877 CA3319520	61	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA121138061 rs886534149	62	E>Q		No	ClinGen TOPMed
CA3319522 rs780528487	65	R>G		No	ClinGen ExAC gnomAD
rs749710704 CA3319523	66	A>G		No	ClinGen ExAC gnomAD
CA3319524 rs749710704	66	A>V		No	ClinGen ExAC gnomAD
CA360200771 rs1334669212	67	G>D		No	ClinGen TOPMed gnomAD
rs1444026684 CA360200808	70	V>A		No	ClinGen gnomAD
CA360200807 rs1465104668	70	V>I		No	ClinGen TOPMed gnomAD
CA3319526 rs772644856	71	M>L		No	ClinGen ExAC TOPMed gnomAD
CA3319527 rs771977077	72	Q>H		No	ClinGen ExAC gnomAD
rs1580270319 CA360200827	73	T>A		No	ClinGen Ensembl
rs193083153 CA3319532	78	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs193083153 CA3319531	78	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360200882 rs996120287	80	E>D		No	ClinGen TOPMed gnomAD
rs1200400828 CA360200876	80	E>K		No	ClinGen gnomAD
CA360200885 rs1252048608	81	D>H		No	ClinGen TOPMed
CA3319534 rs763800908	85	N>K		No	ClinGen ExAC gnomAD
TCGA novel	85	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360200927 rs1237587617	87	G>S		No	ClinGen gnomAD
CA121138102 rs778379680	88	N>Y		No	ClinGen TOPMed
CA360200946 rs1419928196	89	Y>*		No	ClinGen gnomAD
CA360200967 rs1161470062	92	E>D		No	ClinGen gnomAD
rs1228758707 CA360200981	94	I>T		No	ClinGen TOPMed
CA360200985 rs1465408655	95	S>P		No	ClinGen TOPMed gnomAD
CA360200984 rs1465408655	95	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	96	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386939809 CA360201533	96	G>E		No	ClinGen gnomAD
rs374780042 CA3319558	96	G>R		No	ClinGen ESP ExAC gnomAD
CA360201620 rs1284359630	100	N>S		No	ClinGen gnomAD
TCGA novel	102	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451837652 CA360201686	103	A>G		No	ClinGen TOPMed
CA360201672 rs1217349455	103	A>T		No	ClinGen gnomAD
rs200348644 CA121138396	104	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754328429 CA3319561	105	D>N		No	ClinGen ExAC gnomAD
CA121138406 rs894122242	107	A>T		No	ClinGen TOPMed gnomAD
CA360201780 rs1488292716	108	R>*		No	ClinGen TOPMed gnomAD
rs1488292716 CA360201778	108	R>G		No	ClinGen TOPMed gnomAD
CA3319563 COSM259633 rs111297335	108	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1270788267 CA360201811	110	V>M		No	ClinGen gnomAD
rs920732655 CA360201861	112	D>G		No	ClinGen TOPMed
rs1476685775 CA360201849	112	D>N		No	ClinGen gnomAD
rs920732655 CA121138415	112	D>V		No	ClinGen TOPMed
TCGA novel	114	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758515635 COSM266094 CA3319565	116	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs778015134 CA3319566	116	A>V		No	ClinGen ExAC gnomAD
rs890534741 CA121138424	118	V>A		No	ClinGen TOPMed
rs890534741 CA360201988	118	V>G		No	ClinGen TOPMed
CA3319567 rs143655897	118	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA360202022 rs1348750170	120	G>E		No	ClinGen TOPMed gnomAD
CA360202021 rs1348750170	120	G>V		No	ClinGen TOPMed gnomAD
COSM318921 CA3319568 rs757263273	121	G>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA360202025 rs1424905035	121	G>R		No	ClinGen gnomAD
rs1580270907 CA360202074	122	V>G		No	ClinGen Ensembl
rs781266642 CA121138430	122	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3319569 rs781266642	122	V>M		No	ClinGen ExAC TOPMed gnomAD
CA360202103 rs1338412320	123	S>T		No	ClinGen TOPMed
CA3319571 rs768671266	125	T>K		No	ClinGen ExAC
rs1041682182 CA121138441	126	P>S		No	ClinGen TOPMed gnomAD
rs778542559 CA3319572 COSM1438731	128	Y>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	129	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	130	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs971704912 CA121138454	131	C>*		No	ClinGen gnomAD
CA3319573 rs761703165	131	C>R		No	ClinGen ExAC gnomAD
CA360202310 rs771838936	132	K>N		No	ClinGen ExAC gnomAD
CA3319575 rs73769969	133	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA121138460 rs201254099	133	S>N		No	ClinGen 1000Genomes
rs539654201 CA3319576	134	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs539654201 CA360202355	134	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA3319577 rs770508190	136	E>K		No	ClinGen ExAC gnomAD
CA3319578 rs776303364	140	V>I		No	ClinGen ExAC gnomAD
rs1580270975 CA360202610	142	L>R		No	ClinGen Ensembl
rs1015430903 CA121138472	144	Q>*		No	ClinGen TOPMed
CA121138475 rs1033278780	144	Q>R		No	ClinGen TOPMed
rs1370516824 CA360202738	146	E>Q		No	ClinGen TOPMed
CA360202865 rs1412459203	149	M>T		No	ClinGen gnomAD
CA3319581 rs752979930	150	K>R		No	ClinGen ExAC gnomAD
CA3319583 rs139630220	153	V>M		No	ClinGen ESP ExAC gnomAD
TCGA novel	154	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1580271022 CA360203055	154	D>H		No	ClinGen Ensembl
TCGA novel	156	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA121138748 rs745393938	160	Y>*		No	ClinGen Ensembl
rs149312676 CA3319608	160	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	160	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	161	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	162	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3319609 rs777670063	162	E>G		No	ClinGen ExAC TOPMed gnomAD
CA360203198 rs1247929414	163	H>Y		No	ClinGen TOPMed
TCGA novel	164	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA121138756 rs1045603041	164	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1262873443 CA360203263	168	V>E		No	ClinGen TOPMed
CA3319615 rs745363372	168	V>L		No	ClinGen ExAC gnomAD
CA3319614 rs745363372	168	V>M		No	ClinGen ExAC gnomAD
rs774887606 CA3319617	170	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3319619 rs561801076	171	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3319618 rs199901954	171	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs762223954 CA3319621	174	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3319620 rs774676302	174	L>S		No	ClinGen ExAC TOPMed gnomAD
rs144680120 CA3319622	175	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1036808942 CA121138778	175	I>V		No	ClinGen TOPMed gnomAD
CA3319623 rs773419262	176	A>P		No	ClinGen ExAC gnomAD
rs1282432077 CA360203393	177	S>F		No	ClinGen gnomAD
CA360203404 rs548757864	178	G>C		No	ClinGen ExAC gnomAD
rs548757864 CA3319624	178	G>S		No	ClinGen ExAC gnomAD
CA360203436 rs1225288286	179	K>R		No	ClinGen gnomAD
TCGA novel	182	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1225154425 CA360203511	182	A>V		No	ClinGen TOPMed
rs1410822136 CA360203516	183	A>T		No	ClinGen gnomAD
rs1471288416 CA360203539	184	T>A		No	ClinGen gnomAD
CA3319626 rs368293187	185	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3319625 rs766432370	185	M>T		No	ClinGen ExAC gnomAD
CA360203594 rs1195917528	186	C>S		No	ClinGen gnomAD
rs542592055 CA3319627	187	I>S		No	ClinGen ExAC TOPMed gnomAD
rs542592055 CA360203611	187	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1580271538 CA360203604	187	I>V		No	ClinGen Ensembl
rs11541208 CA121138794	189	P>Q		No	ClinGen gnomAD
rs11541208 CA360203637	189	P>R		No	ClinGen gnomAD
rs1462737949 CA360203651	190	E>D		No	ClinGen gnomAD
rs148520232 CA3319629	190	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3319630 rs757183780	191	G>A		No	ClinGen ExAC gnomAD
rs780866090 CA3319631	194	H>R		No	ClinGen ExAC gnomAD
CA3319633 rs755757711	196	V>L		No	ClinGen ExAC gnomAD
CA360203729 rs755757711	196	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748846885 CA3319636	197	P>L		No	ClinGen ExAC gnomAD
RCV000883762 rs60947960 CA3319635	197	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360203742 rs60947960	197	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1561253973 CA360203761	198	P>R		No	ClinGen Ensembl
rs773277176	199	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	199	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs59866108 CA3319638	199	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000954255 CA3319637 VAR_061345 rs59866108	199	G>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360203780 rs772421189	200	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3319640 rs772421189	200	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773470146 CA3319641	201	C>S		No	ClinGen ExAC gnomAD
rs1325837950 CA360203796	201	C>Y		No	ClinGen gnomAD
rs1228008168 CA360203807	202	A>S		No	ClinGen gnomAD
CA3319643 rs201307547	204	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs776825529 CA3319644	204	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776825529 CA360203839	204	R>L		No	ClinGen ExAC gnomAD
CA3319647 rs751473089	206	V>A		No	ClinGen ExAC gnomAD
CA3319646 rs549706356	206	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3319648 rs569490866	207	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3319662 rs759839401	210	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3319663 rs769947503	210	A>V		No	ClinGen ExAC gnomAD
rs775746997 CA3319664	212	I>T		No	ClinGen ExAC gnomAD
TCGA novel	213	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3319665 rs761782562	213	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1363421448 CA360205954	213	I>V		No	ClinGen gnomAD
rs76697879 CA121140830	216	N>T		No	ClinGen Ensembl
CA3319666 rs143822893	217	C>*		No	ClinGen ESP ExAC gnomAD
CA3319667 rs750220015	218	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	219	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469184108 CA360206125	222	T>I		No	ClinGen gnomAD
rs760454939 CA3319668	223	I>V		No	ClinGen ExAC gnomAD
rs766168363 CA3319669	225	L>*		No	ClinGen ExAC TOPMed gnomAD
CA3319671 rs754646293	231	M>T		No	ClinGen ExAC gnomAD
CA3319672 rs778354008	233	E>A		No	ClinGen ExAC gnomAD
CA3319673 rs752243322	234	G>C		No	ClinGen ExAC TOPMed gnomAD
CA360206379 rs1180801897	237	A>T		No	ClinGen gnomAD
CA360206391 rs1203550270	238	A>T		No	ClinGen gnomAD
CA3319674 rs758916006	239	R>*		No	ClinGen ExAC gnomAD
rs3733890 CA3319675 VAR_015886	239	R>Q	may decrease risk for coronary artery disease [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360206412 rs1194143252	240	L>V		No	ClinGen gnomAD
CA360206426 rs1250124908	241	K>T		No	ClinGen gnomAD
CA360206451 rs1580274228	243	H>Y		No	ClinGen Ensembl
rs1183750028 CA360206487	245	M>I		No	ClinGen gnomAD
CA360206489 rs1441540989	246	S>R		No	ClinGen TOPMed
rs1352879536 CA360206509	247	Q>*		No	ClinGen TOPMed
CA121140868 rs890094553	248	P>H		No	ClinGen gnomAD
rs890094553 CA360206528	248	P>L		No	ClinGen gnomAD
CA3319676 rs140612005	250	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140612005 CA3319677	250	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs746050748 CA3319679	253	T>I		No	ClinGen ExAC gnomAD
rs1385175691 CA360206597	254	P>S		No	ClinGen TOPMed
rs375894053 CA121140880	255	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs770183554 CA3319680	255	D>H		No	ClinGen ExAC TOPMed gnomAD
rs753107730 CA3319682	256	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA360206633 rs772042804	257	N>D		No	ClinGen ExAC TOPMed gnomAD
rs772042804 CA3319683	257	N>H		No	ClinGen ExAC TOPMed gnomAD
CA121140907 rs1033226753	257	N>K		No	ClinGen Ensembl
rs1580274305 CA360206640	257	N>S		No	ClinGen Ensembl
rs1326277345 CA360206660	258	K>N		No	ClinGen gnomAD
rs1284533527 CA360206647	258	K>Q		No	ClinGen gnomAD
TCGA novel	261	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	261	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3429672 CA3319685 rs762015001	263	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1172352959 CA360206771	267	F>L		No	ClinGen gnomAD
CA360206913 rs1223020387	270	G>E		No	ClinGen gnomAD
rs1215285952 CA360206920	271	L>V		No	ClinGen TOPMed
CA360206944 COSM1735426 rs1484853864	273	P>A	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3319701 rs774513198	274	R>K		No	ClinGen ExAC
CA360206966 rs1261842945	275	V>L		No	ClinGen gnomAD
CA360206996 rs1429821864	277	T>I		No	ClinGen TOPMed gnomAD
rs367818224 CA3319702	278	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1275616892 CA360207022	279	W>*		No	ClinGen TOPMed gnomAD
CA121141518 rs1019608054	279	W>R		No	ClinGen Ensembl
rs770893332 CA3319703	280	D>G		No	ClinGen ExAC gnomAD
TCGA novel	280	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360207055 rs1424841616	282	Q>K		No	ClinGen gnomAD
CA360207070 rs1164614240	283	K>Q		No	ClinGen gnomAD
rs141170569 CA3319705	285	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs141170569 CA360207103	285	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA121141539 rs911828148	285	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3319706 rs200560732	286	R>K		No	ClinGen ExAC TOPMed gnomAD
CA3319708 rs146927442	288	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs774934748 CA3319707	288	A>T		No	ClinGen ExAC gnomAD
rs146927442 CA3319709	288	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757819755 CA3319711	289	Y>*		No	ClinGen ExAC gnomAD
rs751124320 CA3319710	289	Y>C		No	ClinGen ExAC gnomAD
rs10037809 CA121141583	290	N>H		No	ClinGen gnomAD
CA3319712 rs768200589	290	N>S		No	ClinGen ExAC gnomAD
rs377417011 CA3319715	294	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1185001291 CA360207246	296	I>M		No	ClinGen TOPMed gnomAD
CA3319717 rs558655286	296	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3319716 rs749423123	296	I>V		No	ClinGen ExAC TOPMed gnomAD
rs778825106 CA3319718	297	G>S		No	ClinGen ExAC gnomAD
CA360207265 rs1158827756	298	G>E		No	ClinGen gnomAD
rs776616006 CA3319721	299	C>F		No	ClinGen ExAC gnomAD
CA3319720 rs770841868	299	C>G		No	ClinGen ExAC gnomAD
rs745809993 CA360207280	299	C>W		No	ClinGen ExAC gnomAD
rs769519244 CA3319723	304	P>S		No	ClinGen ExAC gnomAD
rs1453678761 CA360207367	306	H>Q		No	ClinGen gnomAD
CA360207358 rs1185730276	306	H>Y		No	ClinGen TOPMed
rs200730591 CA3319724	313	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762471648 CA3319725	315	A>T		No	ClinGen ExAC gnomAD
TCGA novel	316	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768405577 CA3319726	316	P>T		No	ClinGen ExAC TOPMed gnomAD
rs773721579 CA3319727	318	R>K		No	ClinGen ExAC gnomAD
rs537868595 CA3319728	319	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA360207544 rs1209419801	321	L>W		No	ClinGen TOPMed
CA121141710 rs1054252814	323	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs750906337 CA3319730	323	P>S		No	ClinGen ExAC gnomAD
CA3319732 rs766615896	325	S>*		No	ClinGen ExAC gnomAD
rs755130315 CA3319734	328	H>L		No	ClinGen ExAC gnomAD
rs1470365143 CA360207659	331	W>*		No	ClinGen gnomAD
CA3319738 rs377305354	335	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3319743 rs143484780	341	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745755101 CA3319742	341	P>S		No	ClinGen ExAC gnomAD
rs1282605639 CA360207844	342	W>*		No	ClinGen gnomAD
CA360207873 rs1580275209	343	V>G		No	ClinGen Ensembl
CA360207861 rs1324180973	343	V>I		No	ClinGen gnomAD
CA3319759 rs777789050	348	R>T		No	ClinGen ExAC TOPMed gnomAD
CA3319760 rs751676497	349	K>R		No	ClinGen ExAC gnomAD
rs1220742533 CA360209235	351	Y>*		No	ClinGen gnomAD
CA360209248 rs1268549220	352	W>R		No	ClinGen TOPMed gnomAD
COSM1634331 rs781510366 CA3319761	353	E>D	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1452727506 CA360209283	353	E>Q		No	ClinGen gnomAD
rs749187024 CA3319763	354	N>S		No	ClinGen ExAC gnomAD
CA3319766 rs543295195	356	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543295195 CA3319765	356	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3319764 rs369084085	356	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA360209354 rs376539128	357	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs376539128 CA3319767	357	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772824496 CA3319768	361	R>G		No	ClinGen ExAC TOPMed gnomAD
CA360209399 rs556850126	361	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3319769 rs556850126	361	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA121143447 rs772824496	361	R>W		No	ClinGen ExAC TOPMed gnomAD
rs771334988 CA3319770	362	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs777124916 CA360209425	363	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1430910361 CA360209441	364	N>K		No	ClinGen TOPMed gnomAD
rs759974407 CA3319772	364	N>S		No	ClinGen ExAC gnomAD
rs765586619 CA3319773	365	P>L		No	ClinGen ExAC gnomAD
CA121143477 rs370669641	365	P>S		No	ClinGen ESP
CA3319774 rs775862072	366	S>T		No	ClinGen ExAC TOPMed gnomAD
CA360209470 rs1324635575	367	M>V		No	ClinGen TOPMed
CA360209492 rs1580276823	369	K>Q		No	ClinGen Ensembl
CA360209504 rs1580276824	369	K>R		No	ClinGen Ensembl
rs937877048 CA121143506	370	P>T		No	ClinGen Ensembl
rs764359897 CA3319776	371	D>E		No	ClinGen ExAC TOPMed gnomAD
rs763129287 CA3319775	371	D>G		No	ClinGen ExAC gnomAD
TCGA novel	371	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360209534 rs752444679	372	G>A		No	ClinGen TOPMed gnomAD
rs1050825 CA121143534	372	G>C		No	ClinGen gnomAD
CA121143536 rs752444679	372	G>D		No	ClinGen TOPMed gnomAD
CA360209532 rs1050825	372	G>R		No	ClinGen gnomAD
rs969348527 CA121143537	373	W>*		No	ClinGen TOPMed gnomAD
rs969348527 CA360209558	373	W>C		No	ClinGen TOPMed gnomAD
CA360209565 rs1249903350	374	G>*		No	ClinGen TOPMed gnomAD
CA3319777 rs751635600	374	G>E		No	ClinGen ExAC gnomAD
CA360209564 rs1249903350	374	G>R		No	ClinGen TOPMed gnomAD
CA3319778 rs757296833	375	V>M		No	ClinGen ExAC gnomAD
rs767508279 CA3319779	376	T>N		No	ClinGen ExAC gnomAD
rs80045339 CA121143586	378	G>E		No	ClinGen Ensembl
CA360209622 rs1580276873	379	T>A		No	ClinGen Ensembl
CA121143589 rs143135149	379	T>R		No	ClinGen ESP TOPMed gnomAD
rs148233515 CA3319782	381	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3319783 rs148233515	381	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1252380954 CA360209660	382	L>P		No	ClinGen TOPMed
CA3319785 CA3319786 rs748007994	383	M>I		No	ClinGen ExAC TOPMed gnomAD
rs777633069 CA3319789	385	Q>K		No	ClinGen ExAC
rs201007228 CA3319791	387	E>K		No	ClinGen ExAC gnomAD
CA121143648 rs992908678	387	E>V		No	ClinGen TOPMed
CA3319792 rs776026737	388	A>P		No	ClinGen ExAC gnomAD
rs746344824 CA3319793	390	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs866061122 CA121143662	390	T>I		No	ClinGen TOPMed gnomAD
rs866061122 CA121143661	390	T>S		No	ClinGen TOPMed gnomAD
CA3319794 rs770324777	392	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA360209748 rs1194098929	393	Q>L		No	ClinGen TOPMed gnomAD
CA3319795 rs775808725	394	L>P		No	ClinGen ExAC gnomAD
CA360209760 rs1580276954	395	K>R		No	ClinGen Ensembl
CA360209781 rs1354060171	398	F>S		No	ClinGen TOPMed
rs763726268 RCV000190384	400	K>missing		No	ClinVar dbSNP
CA3319797 rs141256561	400	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3319799 rs774498400	403	F>I		No	ClinGen ExAC gnomAD
CA3319798 rs774498400	403	F>L		No	ClinGen ExAC gnomAD
CA360209833 rs1472891924	405	S>*		No	ClinGen gnomAD
CA3319801 rs750512276	406	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3319800 rs767597704	406	Q>L		No	ClinGen ExAC gnomAD
rs767597704 CA360209840	406	Q>R		No	ClinGen ExAC gnomAD
rs754922928 CA3319802	407	Q>Y		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q93088

No regional properties for Q93088

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q93088

Functions

		Description
EC Number	2.1.1.5	Methyltransferases
Subcellular Localization	Cytoplasm, cytosol Nucleus	Predominantly localized in the cytoplasm with a small fraction detected in the nucleus Translocates into the nucleus upon oxidative stress
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 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 exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name	Definition
betaine-homocysteine S-methyltransferase activity	Catalysis of the reaction: L-homocysteine + betaine = N,N-dimethylglycine + L-methionine.
zinc ion binding	Binding to a zinc ion (Zn).

7 GO annotations of biological process

Name	Definition
'de novo' L-methionine biosynthetic process	The chemical reactions and pathways resulting in the formation of L-methionine, the L-enantiomer of (2S)-2-amino-4-(methylsulfanyl)butanoic acid, from simpler components.
amino-acid betaine catabolic process	The chemical reactions and pathways resulting in the breakdown of any betaine, the N-trimethyl derivative of an amino acid.
amino-acid betaine metabolic process	The chemical reactions and pathways involving any betaine, the N-trimethyl derivative of an amino acid.
L-methionine salvage	Any process that generates L-methionine from derivatives of it, without de novo synthesis.
methionine biosynthetic process	The chemical reactions and pathways resulting in the formation of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins.
protein methylation	The addition of a methyl group to a protein amino acid. A methyl group is derived from methane by the removal of a hydrogen atom.
regulation of homocysteine metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q99707	MTR	Methionine synthase	Homo sapiens (Human)	PR
Q09582	metr-1	Probable methionine synthase	Caenorhabditis elegans	PR
Q32LQ4	bhmt	Betaine--homocysteine S-methyltransferase 1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MPPVGGKKAK	KGILERLNAG	EIVIGDGGFV	FALEKRGYVK	AGPWTPEAAV	EHPEAVRQLH
70	80	90	100	110	120
REFLRAGSNV	MQTFTFYASE	DKLENRGNYV	LEKISGQEVN	EAACDIARQV	ADEGDALVAG
130	140	150	160	170	180
GVSQTPSYLS	CKSETEVKKV	FLQQLEVFMK	KNVDFLIAEY	FEHVEEAVWA	VETLIASGKP
190	200	210	220	230	240
VAATMCIGPE	GDLHGVPPGE	CAVRLVKAGA	SIIGVNCHFD	PTISLKTVKL	MKEGLEAARL
250	260	270	280	290	300
KAHLMSQPLA	YHTPDCNKQG	FIDLPEFPFG	LEPRVATRWD	IQKYAREAYN	LGVRYIGGCC
310	320	330	340	350	360
GFEPYHIRAI	AEELAPERGF	LPPASEKHGS	WGSGLDMHTK	PWVRARARKE	YWENLRIASG
370	380	390	400
RPYNPSMSKP	DGWGVTKGTA	ELMQQKEATT	EQQLKELFEK	QKFKSQ