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This mutation, in the ninth of the gene's 15 exons, corresponds to a T to A transversion at nucleotide position 1007 of the transcript (GenBank Accession NM_024248). It is predicted to result in replacement of serine by threonine at amino acid position 305 of the protein (S305T), in the conserved KMSKS motif. (J:167594)
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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References Literature
Title
PMID
Journal
Year
IF
