Log In|Sign Up
EN
A single, G-to-T base substitution at position 6,489 of the genomic DNA sequence (AF303737, NCBI) was identified which leads to substitution of serine with isoleucine at amino acid position 55 (p.S55I) of the translated protein. (J:93014, J:96349)
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
