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中文
这个突变是位于基因NM_008728第1185位的A替换为T的转换，导致蛋白质第384位的异亮氨酸被苯丙氨酸替换（p.I384F）。这个改变发生在细胞膜附近的外源性域的膜周边区域。（来源：J:132964）
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
