OMIM Mutated Sequence Browser
Detailed information of OMIM mutated sequence
Mutated Sequence Name No
100650.0001.P01
OMIM AV No
100650.0001
OMIM No
100650
OMIM Name
+100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2;;ALDEHYDE DEHYDROGENASE 2;; ALDH, LIVER MITOCHONDRIAL;; ACETALDEHYDE DEHYDROGENASE 2 SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO, INCLUDED;; ALDH2/HMGIC FUSION GENE, INCLUDED
Mutated information [1]
Type : Point
Amino acid level : (504 - 504) : ['E' -> 'K']
Sequence Length
517 aa
Sequence Viewer
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|......10|.......20|.......30|.......40|.......50|.......60|.......70|.......80| |
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MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPSTGEVICQVAEGDKEDVDKAV
KAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLAALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKT
IPIDGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPG
FGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADMDWAVEQAHFALFFNQGQCCC
AGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGPQVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQP
TVFGDVQDGMTIAKEEIFGPVMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQS
PFGGYKMSGSGRELGEYGLQAYTKVKTVTVKVPQKNS |
