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The mutation is a T to C transition at base pair 106,224,647 (Build 38) on Chromosome 9, or base pair 2,050 in the GenBank genomic region NC_000075, in the second of the gene's two exons; this corresponds to nucleotide 1,242 in the mRNA sequence NM_031178. The mutation results in a leucine (L) to proline (P) substitution at amino acid position 379 (L379P) of the protein. (J:220063)
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
