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Sequencing of the a allele revealed 4 nucleotide differences compared to the b allele. These changes alter the amino acid residues 11, 15, 17 and 19 of the encoded protein from Gly, Tyr, Ala and Arg to Arg, Cys, Val and Cys, respectively. This encoded protein has 2 fold greater activity than the protein encoded by the b allele as demonstrated in an in vitro assay. (J:49430)
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：
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| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
