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The molecular lesion is a G to T transversion at base pair 87,492,706 (v38) on chromosome 7 or base pair 737 in the GenBank genomic region NC_000073, which corresponds to nucleotide 706 in the mRNA sequence NM_011661 within exon 5 of 5 total exons. The mutation results in a leucine (L) to phenylalanine (F) substitution at amino acid position 215 (L215F) of the protein. (J:216050)
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
