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
