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HOME > OMIM MUTATED SEQUENCE BROWSER > LIST OF OMIM MUTATED SEQUENCES > DETAILED INFORMATION OF OMIM MUTATED SEQUENCE

OMIM Mutated Sequence Browser

Detailed information of OMIM mutated sequence

Mutated Sequence Name No

100650.0001.P02

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

|......10|.......20|.......30|.......40|.......50|.......60|.......70|.......80|
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MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPSTGEVVCQVAEGDKEDVDKAV
KAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLAALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKT
IPIDGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPG
FGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADMDWAVEQAHFALFFNQGQCCC
AGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGPQVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQP
TVFGDVQDGMTIAKEEIFGPVMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQS
PFGGYKMSGSGRELGEYGLQAYTKVKTVTVKVPQKNS