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A single C-to-T point mutation in exon 10 changing a CAG codon to TAG introducing a stop codon in place of a glutamine at amino acid 322 (p.Q322*), which is just after the furin cleavage site and eliminates the C-terminal region of the protein including the transmembrane domain. (J:278455)
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
