Log In|Sign Up
EN
A spontaneous mutation was observed in 2 recombinant congenic strains carrying susceptibility alleles for malaria resistance QTL Char1 and Char2. A point mutation has occurred changing base 269 from T to A. This results in an amino acid change at residue 90 from isoleucine to asparagine. The identical I to N mutation has been described in a human case of pyruvate kinase deficiency. (J:86735)
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
