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A G-to-A transition in exon 7, at nucleotide 1750 of the full-length coding sequence, is predicted to substitute lysine for a highly conserved glutamic acid at amino acid position 584 of the translation product of the z/b splice variant (E584K) and position 629 of the protein produced from the w/a variant (E629K). (J:167344)
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
