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A single C-to-A transversion at coding nucleotide 1382 caused a nonsense mutation at serine codon 461 (p.S461*). Premature termination abolishes the indispensiable serine residue at the C-terminal end and results in a non-functioning protein. (J:99486)
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
