Log In|Sign Up
EN
The mutation is an A-to-C transversion at codon 248. This results in the alteration of the stop codon for a cysteine. The predicted protein contains 19 additional amino acids at the carboxy terminus. TPI1 activity in heterozygotes is 50% that of wild-type in blood; and also reduced in liver, lung, spleen, kidney, brain, heart and muscle. (J:25049)
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
