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中文
这个在匹兹堡大学进行的筛选中分离出来的突变，其分子变异是cDNA(NM_001025391)第4外显子第530位的T到A替换，导致了密码子530的甲硫氨酸被替换为赖氨酸，即p.M177K。在对致病突变Sufub2b273Clo的测序中，还检测到了额外的偶然变异，可能存在于携带这个突变的库存中。
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
