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中文
这种突变是49号密码子的三个CTC核苷酸缺失，并用两个TA核苷酸替换，导致丝氨酸被甲硫氨酸取代，进而使编码蛋白的其余部分阅读框架发生偏移。这种等位基因的转录表达量相对于野生型减少了四倍。（来源：J:75206）
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
