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中文
雪花突变对应于在第14个总共24个外显子中的第1506位由C变为T的转换，导致蛋白质（P458L）中第459位的脯氨酸被替换为亮氨酸。这个改变发生在高度保守的内腔区域，位于第5和第6个跨膜域之间。（来源：J:133621）
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
