Log In|Sign Up
中文
在exon 22的第1020位，谷氨酸(甘氨酸，GAA)被替换成了赖氨酸(AAA)，这种变异表现为p.E1020K(等同于人类的p.E1021K，与PASLI相关，这是一种导致衰老T细胞、淋巴结增大和免疫缺陷的GOF突变，J:292599)。
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
