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The mutation is a a T to G transition at base pair 59,549,036 (Build 38) on Chromosome 11, or base pair 7,468 in the GenBank genomic region NC_000077. This site corresponds to nucleotide 1,664 in the mRNA sequence NM_145827, within exon 4 of 10 total exons. The mutation results in a phenylalanine (F) to valine (V) substitution at amino acid position 480 (F480V) of the protein. (J:220071)
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
