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中文
在exon 2的第186位，发现了一个G到A的错义突变(c.186G>A)。这导致了密码子62上的甲硫氨酸被异亮氨酸替代(p.Met62Ile)，这是一个在脊椎动物中高度保守的区域。(来源：J:250475)
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
