Log In|Sign Up
EN
The molecular lesion is a nucleotide G-to-A transition in exon 3 at nucleotide position 647 (or coding nucleotide 305) (RefSeq NM_011808.2), which results in a glycine to glutamate substitution at residue 102 (p.G102E) within the Pointed (PNT) domain of the encoded protein. Multiple sequence alignment showed that this glycine residue is highly conserved among different species. (J:226957)
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
