Transcript #00001343

Transcript name MT-ND4-201
Gene name MT-ND4 (mitochondrially encoded NADH dehydrogenase 4)
Chromosome M
Transcript - NCBI ID MT-ND4-201
Transcript - Ensembl ID ENST00000361381
Protein - NCBI ID -
Protein - Ensembl ID ENSP00000354961
Protein - Uniprot ID -
Remarks -


Variants

73 entries on 1 page. Showing entries 1 - 73.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
?/? - . c.1017T>G p.S339* - - - -
+/+ - . c.1018C>A p.R340S - - - -
+/+ - . c.1018C>G p.R340G - - - -
+/+ - . c.1019G>A p.R340H - - - -
?/? - . c.1053A>G p.L351L - - - -
?/? - . c.1060C>G p.L354V - - - -
+?/+? - . c.1073G>A p.W358* - - - -
?/? - . c.1081C>T p.L361L - - - -
?/? - . c.1084G>A p.A362T - - - -
+?/+? - . c.1115C>A p.T372N - - - -
?/? - . c.1140T>C p.S380S - - - -
?/? - . c.114T>C p.P38P - - - -
?/? - . c.1155G>A p.T385T - - - -
+?/+? - . c.1160C>T p.S387F - - - -
?/? - . c.1170T>G p.N390K - - - -
?/? - . c.1185T>C p.L395L - - - -
?/? - . c.1188A>G p.T396T - - - -
?/? - . c.1197C>T p.N399N - - - -
?/? - . c.1204G>A p.V402I - - - -
?/? - . c.1210G>A p.A404T - - - -
?/? - . c.1225T>C p.T409H - - - -
+?/+? - . c.1235C>T p.T412I - - - -
?/? - . c.123T>C p.F41F - - - -
?/? - . c.1248G>A p.W416W - - - -
+?/+? - . c.1267A>G p.I423V - - - -
+?/+? - . c.1268T>C p.I423T - - - -
?/? - . c.1294C>T p.R432W - - - -
?/? - . c.1332T>C p.I444I - - - -
?/? - . c.1353C>G p.P451P - - - -
?/? - . c.156T>C p.C52C - - - -
?/? - . c.225C>G p.L75L - - - -
?/? - . c.258T>C p.S86S - - - -
?/? - . c.266T>C p.L89P - - - -
?/? - . c.31T>C p.L11L - - - -
+/+ - . c.325A>G p.T109A - - - -
?/? - . c.328T>C p.F110L - - - -
?/? - . c.387C>T p.T129T - - - -
?/? - . c.413A>G p.N138S - - - -
?/? - . c.417G>A p.Q139Q - - - -
?/? - . c.418C>T p.P140S - - - -
?/? - . c.427C>T p.L143L - - - -
?/? - . c.438C>T p.G146G - - - -
?/? - . c.445T>C p.F149L - - - -
?/? - . c.447C>A p.F149L - - - -
?/? - . c.472C>T p.L158F - - - -
+?/+? - . c.473T>C p.L158P - - - -
?/? - . c.478C>A p.L160M - - - -
?/? - . c.492A>G p.L164L - - - -
+/+ - . c.494T>C p.I165T - - - -
?/? - . c.51T>C p.L17L - - - -
?/? - . c.540T>C p.T180T - - - -
?/? - . c.573C>T p.A191A - - - -
?/? - . c.576C>T p.N192N - - - -
?/? - . c.580T>C p.L194L - - - -
+?/+? - . c.606T>C p.A202A - - - -
?/? - . c.60A>G p.K20K - - - -
?/? - . c.618G>A p.K206K - - - -
?/? - . c.688G>A p.V230M - - - -
+?/+? - . c.708A>G p.L236L - - - -
?/? - . c.715G>A p.G239S - - - -
?/? - . c.720C>A p.G240G - - - -
?/? - . c.726T>C p.G242G - - - -
?/? - . c.788T>G p.V263G - - - -
?/? - . c.844C>A p.L282M - - - -
./. - . c.864_864del p.T288NA - - - -
?/? - . c.882A>G p.M294M - - - -
?/? - . c.904C>T p.L302F - - - -
?/? - . c.906C>G p.L302L - - - -
?/? - . c.915C>T p.T305T - - - -
+/+ - . c.937G>A p.V313I - - - -
?/? - . c.960G>A p.G320G - - - -
?/? - . c.963T>C p.L321L - - - -
?/? - . c.999C>G p.N333K - - - -
Legend