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中文
这种G到C的转换突变导致编码蛋白质的第241位由arginine变为proline，即p.R241P。这个突变位于蛋白质的头部区域。Northern blot结果显示，mRNA的表达量、大小和稳定性没有受到影响。免疫印迹分析表明，表达的蛋白质水平大约只有正常水平的20%。（来源：23257）
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
