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EN
The mutation is a G-to-T transversion at nucleotide position 2505 (Genbank Accession NM_010864), in exon 17 of 41 total exons, resulting in the replacement of serine by isoleucine at position 693 (p.S693I) in the tail domain, near the C-terminal end of the head domain (aa 1-887) of the protein. (J:133119)
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
