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This mutation has been identified as a T to A transversion at nucleotide position 1232 of the transcript, in the 12th of the gene's 33 exons. It is predicted to result in replacement of isoleucine by arginine at amino acid position 346 of the protein (I346R), in the X-box catalytic domain. (J:165702)
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 |
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References Literature
Title
PMID
Journal
Year
IF
