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中文
这种突变被确定为cDNA序列第10762位的T到C替换，源自第69外显子，导致第3588位的丝氨酸被替换为脯氨酸（S3588P）。 Western blot结果显示蛋白表达量正常。免疫组化证实了该蛋白未正确定位在基底膜上。（来源：199856）
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
