Log In|Sign Up
EN
A C to T transversion in codon 771 (exon 23) resulted in the substitution of Arg with Trp (R771W), a mutation initially identified in a patient with symptoms similar to Bloom's syndrome. Sequence analysis of RT-PCR products confirmed that the point mutation in exon 23 was the only change in the coding region of the endogenous gene. (J:77902)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
