Log In|Sign Up
中文
这个分子异常是一个在第4269位的密码子由C变为了A的错义突变（12806C-A），发生在第47号外显子。这预计会导致编码蛋白质的第4269位氨基酸从arginine变为leucine（R4269L）。（来源：J:237905）
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
