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This mutation comprises a T to C transition at nucleotide position 1570 of the cDNA, in the fifth of the gene's 23 exons. It results in replacement of isoleucine by threonine at amino acid 483 of the protein (I483T). (J:153280, J:188598)
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
