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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 MAT1A Q00266 p.Ser38Asn - Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
0.024 (N)
D ( Predicted by rules : 1 )
3 MAT1A Q00266 p.Ala55Asp rs118204002 Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 MAT1A Q00266 p.Lys61Gln rs116443228 variant of unknown significance
2obv
A
Detail
0.10 (T)
0.989 (D)
N
5 MAT1A Q00266 p.Gln119His rs1143693 variant of unknown significance
2obv
A
Detail
0.01 (D)
0.001 (N)
N
6 MAT1A Q00266 p.Ala162Val rs151189144 variant of unknown significance
2obv
A
Detail
0.36 (T)
0.005 (N)
D ( Predicted by rules : 1 )
3 MAT1A Q00266 p.Arg177Gln rs114494303 variant of unknown significance
2obv
A
Detail
0.01 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 MAT1A Q00266 p.Ala194Thr rs148687668 variant of unknown significance
2obv
A
Detail
0.27 (T)
0.028 (N)
N
5 MAT1A Q00266 p.Arg199His rs144099376 variant of unknown significance
2obv
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 MAT1A Q00266 p.Arg199Cys - Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 MAT1A Q00266 p.Glu238Lys rs116528173 variant of unknown significance
2obv
A
Detail
0.08 (T)
0 (N)
N
5 MAT1A Q00266 p.Val241Ile rs147356286 variant of unknown significance
2obv
A
Detail
0.42 (T)
0 (N)
N
6 MAT1A Q00266 p.Ala259Val rs138556525 variant of unknown significance
2obv
A
Detail
0.02 (D)
0.187 (N)
N
7 MAT1A Q00266 p.Arg264Cys rs118204005 Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 MAT1A Q00266 p.Arg264His rs72558181 Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
0.998 (D)
D ( Predicted by rules : 1 2 )
4 MAT1A Q00266 p.Leu305Pro rs118204004 Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 MAT1A Q00266 p.Gly309Glu rs138806118 variant of unknown significance
2obv
A
Detail
0.02 (D)
0.152 (N)
N
6 MAT1A Q00266 p.Ile322Met rs118204001 Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
0.895 (D)
D ( Predicted by rules : 1 2 )
4 MAT1A Q00266 p.Gly336Arg rs118204006 Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
1 (D)
N
5 MAT1A Q00266 p.Glu344Ala - Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.06 (T)
0.969 (D)
N
6 MAT1A Q00266 p.Asp354Gly rs112848063 variant of unknown significance
2obv
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 MAT1A Q00266 p.Arg356Gln rs138742870 Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.01 (D)
1 (D)
N
4 MAT1A Q00266 p.Arg356Trp rs116659053 variant of unknown significance
2obv
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 MAT1A Q00266 p.Pro357Leu rs118204003 Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
0.916 (D)
D ( Predicted by rules : 1 )
3 MAT1A Q00266 p.Gly378Ser - Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
2obv
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )