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A to T transversion at base pair 85,620,369(v38) on chromosome 6, or base pair 32,871 in the GenBank genomic regionNC_000072encodingAlms1. The mutation corresponds to residue 2,291 in the NM_145223 mRNA sequence in exon 8 of 23 total exons. The mutation results in substitution of arginine 726 for a premature stop codon (R726*) in the ALMS1 protein. (J:274969)
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
