Results for the protein: Q00266

Results for the Protein: Q00266

417297

4143

MAT1A

NCBI, UniProt

METK1_HUMAN RecName: Full=S-adenosylmethionine synthase isoform type-1; Short=AdoMet synthase 1; AltName: Full=Methionine adenosyltransferase 1; Short=MAT 1; AltName: Full=Methionine adenosyltransferase I/III; Short=MAT-I/III

Known Diseases associated with this Protein:
  METHIONINE ADENOSYLTRANSFERASE DEFICIENCY (MATD)
  METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL DOMINANT
  METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE

19

1

7

0

13

Tips:

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Default View: MetK - COG0192 S-AdoMet_synt_N - pfam00438 S-AdoMet_synt_M - pfam02772 S-AdoMet_synt_C - pfam02773	Swiss-Prot Protein: Q00266 Identical to: NP_000420 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
S-AdoMet_synt_N	pfam00438	1e-69	18	115
S-AdoMet_synt_M	pfam02772	1.5e-80	128	250
S-AdoMet_synt_C	pfam02773	2.7e-92	252	389

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006935	Disease	p.ALA55ASP	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_006936	Disease	p.ARG199CYS	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_031243	Disease	p.ARG264CYS	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_006940	Disease	p.ARG356GLN	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_006937	Disease	p.ARG264HIS	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_028944	Polymorphism	p.GLN119HIS	N/A
Swiss-Prot	VAR_031245	Disease	p.GLU344ALA	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_031244	Disease	p.GLY336ARG	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_006942	Disease	p.GLY378SER	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_006939	Disease	p.ILE322MET	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_006938	Disease	p.LEU305PRO	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_006941	Disease	p.PRO357LEU	Methionine adenosyltransferase deficiency (MATD)
Swiss-Prot	VAR_031242	Disease	p.SER38ASN	Methionine adenosyltransferase deficiency (MATD)
OMIM	610550.0002	Disease	p.ALA55ASP	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	610550.0009	Disease	p.ARG264CYS	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	610550.0007	Disease	p.ARG264HIS	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	610550.0010	Disease	p.GLY336ARG	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	610550.0001	Disease	p.ILE322MET	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	610550.0004	Disease	p.LEU305PRO	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	610550.0003	Disease	p.PRO357LEU	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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