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中文
在编码序列的第4066位发生一个A到G的转换突变，导致编码蛋白质的第1356位由甲硫氨酸变为缬氨酸。这个氨基酸位于第八个跨膜域，并在铜转运ATP酶中高度保守。(来源：J:35781, J:114243)
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
