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EN
The molecular lesion is a T to A transversion at base pair 101,745,645 (v38) on chromosome 4, or base pair 28,239 in GenBank genomic region NC_000070; this corresponds to nucleotide 1,181 in the mRNA sequence NM_146146, within exon 5 of 19 total exons. The mutation results in a methionine (M) to lysine (K) substitution at amino acid position 210 (M210K) of the protein. (J:216794)
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
