Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.3.1.108 (
TAT
)
2,389
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We found normal individuals whose aspartoacylase gene Y231X mutation site consistently gave no signal in a primer extension assay. We determined the nucleotide sequence of the relevant region of the gene in those individuals, and found a new allele with a thymidine residue at the mutation site instead of a cytidine. Since both TAC and
TAT
code for tyrosine, this sequence polymorphism has no effect on the amino acid sequence of the
ASPA protein
. We found the relative frequencies of the 693C and the 693T alleles in the tested population to be 0.75 and 0.25 respectively.
...
PMID:A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing. 988 84
