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Literature summary for 2.3.1.255 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
Search for more literature for 2.3.1.255

Protein Variants

Protein Variants Comment Organism
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

Organism UniProt Comment Textmining
Homo sapiens Q9BXJ9 auxiliary subunit NAA15
-

Synonyms

Synonyms Comment Organism
NAA15 auxiliary subunit Homo sapiens
NatA
-
 Homo sapiens

General Information

General Information Comment Organism
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