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The mutation is identified as G to T mutation at nucleotide position 1445, resulting in a glycine to valine missense mutation at residue 482 (G482V). The mutation occurs in a transmembrane segment that contains part of the chloride ion selectivity filter. (J:243745)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
