Log In|Sign Up
EN
A G to T transversion at position 4538 downstream from the distal end of exon 26 creats a new donor spice site which is used to the complete exclusion of the normal donor site. As a result, 53 additional intronic nucleotides are incorporated into the resulting mRNA. This results in 20 aberrant amino acids followed by premature termination due to an in-frame TGA codon after amino acid 859. This eliminates the second C2 domain and part of the second MHD. (J:88776, J:119974)
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
