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EN
The mutation corresponds to a C-to-A transversion at nucleotide position 1094, in the 4th of 7 total exons, that creates a premature stop codon in place of serine at amino acid position 333 (S333Ter), in the 7th of 12 transmembrane domains, predicted to delete 297 amino acids from the protein's C-terminus. (J:133628)
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
