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Sequence analysis revealed a C-to-T transition at coding coordinate 211 resulting in a nonsense codon in place of arginine 46 in exon 4 (p.R46* in mature protein or p.R71* in pre-protein). A severely truncated protein product is expected to be expressed from this allele. (J:82263)
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
