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A point mutation resulting in the C-to-T transition at nucleotide 1051 (accession# X81593) located in exon 7, leads to the replacement of an arginine with a cysteine at amino acid 320 (p.R320C). Although mutant protein is detectable in the nucleus, there was no detectable activation of the Krt2-18 target gene. (J:61394)
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
