Log In|Sign Up
EN
The mutation is a C-to-A transversion at nucleotide position 1305, in the last of 12 exons, that results in replacement of proline by glutamine at amino acid position 349 (P349E), just 4 amino acids N-terminal to the death domain (aa ~356-431). (J:133275)
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
