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A T to A transversion in intron 7 alters splicing of the RNA and is predicted to produce two altered proteins a 385 amino acid N-terminal fragment and a full length protein with a 3 amino acid insertion. Only the full length protein with insertion is found. The mutant protein has decreased activity. (J:94381)
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
