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An A-to-T transversion at coding nucleotide 28 (c.28A>T) results in a methionine to leucine amino acid substitution at position 10 of the encoded protein (p.M10L). The mutation affects a conserved AUG codon that functions as an alternative translation initiation site and consequently reduces the abundance of protein. The mutation does not destabilize mRNA. (J:71979)
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
