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中文
这个突变在cDNA序列的第3外显子，被确定为在第301位的C-G转换。它导致成熟蛋白质的第79位由丝氨酸替换为 cysteine（p.S79C或p.S80C，因为初级蛋白质中仍保留起始甲硫氨酸，位置为第80位）。信息来源：(J:104190)
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
