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Exon 11 of the gene harbors two substitution mutations (p.Q377E and p.G380E) that eliminate acetyl CoA binding (see PMID:10966108 and PMID:9727487). Based on splice variant 1 ("alpha" - NM_178637.2), at the nucleic acid level, the changes are: p.Q377E: c.1129C-G, c.1131G-A (CAG - GAG) p.G380E: c.1139G-A, c.1140C-G (GCC - GAG) (J:254332)
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
