Sequencing of the b allele revealed 5 nucleotide differences compared to the a allele. These changes alter the amino acid residues 11, 15, 17, 19 and 209 of the encoded protein from Arg, Cys, Val, Cys and Ile to Gly, Tyr, Ala, Arg and Leu, respectively. This encoded protein has greater activity than the protein encoded by the b allele as demonstrated in an in vitro assay. Further studies attributed most of the activity difference to the variation at position 209. (J:43930)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Not Applicable
Nucleotide substitutions
--
1
5
7

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
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