Log In|Sign Up
EN
Sequence analysis showed this allele involves a G-to-A transition (C-to-T on forward strand) at coding nucleotide 581 which results in a arginine to glutamine missense mutation at position 194 (p.R194Q). The mutation reduces but does not eliminate enzyme activity. (J:1961)
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
