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The mutation comprises a T to A transversion at nucleotide position 929 of the mRNA sequence, in the ninth of the gene's 33 exons. It converts a triplet encoding cysteine at amino acid position 236 of the 1262-amino acid myosin VI protein to a premature termination codon (C236Ter). (J:86521, J:161348)
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
