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中文
一个G到A的转换突变导致编码蛋白质的第2271位由谷氨酸替换为赖氨酸（p.E2271K）。这个位点位于第二和第三P-loop结构之间，P-loop是一个高度保守的保守区域，构成发动机域。（来源：J:44093）
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
