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EN
The mutation, in exon 3, has been identified as a C-to-G transversion at nucleotide position 301 of the cDNA sequence (ENSMUST00000005292). It replaces serine with cysteine at amino acid position 79 of the mature protein (p.S79C or p.S80C in the immature protein with initiator methionine still in place). (J:104190)
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
