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The mutation is a three nucleotide (CTG) in-frame deletion in exon 16. This mutation is predicted to result in the deletion of a leucine residue in a highly conserved stretch of five leucines (amino acids 537541) of the encoded protein. In vitro studies showed that the mutant protein is unstable and is present at 1% of the control level. (J:251816)
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
