Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary extracted from

  • Medne, L.; Ahrens-Nicklas, R.C.
    Variants in NAA15 cause pediatric hypertrophic cardiomyopathy (2021), Am. J. Med. Genet. A, 185, 228-233.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.3.1.255 additional information variants c.1009_1012delGAAA, p.Glu337Arg*5 and c.79A>G, p.R27G are associated with pediatric hypertrophic cardiomyopathy. c.1009_1012delGAAA, p.Glu337Arg*5 results in a frameshift in the transcript followed by a premature stop codon five amino acids downstream. c.79A>G, p.R27G is a missense mutation Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.3.1.255 Homo sapiens Q9BXJ9 auxiliary subunit NAA15
-

Synonyms

EC Number Synonyms Comment Organism
2.3.1.255 NAA15 auxiliary subunit Homo sapiens
2.3.1.255 NatA
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.3.1.255 malfunction variants c.1009_1012delGAAA, p.Glu337Arg*5 and c.79A>G, p.R27G are associated with pediatric hypertrophic cardiomyopathy. c.1009_1012delGAAA, p.Glu337Arg*5 results in a frameshift in the transcript followed by a premature stop codon five amino acids downstream. c.79A>G, p.R27G is a missense mutation Homo sapiens