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Literature summary for 2.3.1.255 extracted from

  • McTiernan, N.; Tranebjaerg, L.; Bjrheim, A.S.; Hogue, J.S.; Wilson, W.G.; Schmidt, B.; Boerrigter, M.M.; Nybo, M.L.; Smeland, M.F.; Tuemer, Z.; Arnesen, T.
    Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation (2022), Hum. Genet., 141, 1355-1369.
    View publication on PubMed
Search for more literature for 2.3.1.255

Protein Variants

Protein Variants Comment Organism
A6P NAA10 variant c.16G>C has been identified in a male with intelectual disability and hypertrophic cardiomyopathy. A6P protein is highly reduced in its capacity to form the NatA complex, and displays a moderate reduction in monomeric NAA10 N-acteyltransferase function Homo sapiens
E157K NAA10 variant c.469G>A has been identified in a baby girl with cerebellar vermian hypoplasia with cystic dilatation of the 4th ventricle, a left pneumothorax and a heart murmur. Mutation does not impair NAA10-NAA15 binding and displays a moderate reduction in monomeric NAA10 N-acteyltransferase function Homo sapiens
F128L NAA10 variant c.384T>G has been identified in a boy with mixed specific developmental disorder Homo sapiens
Q129P NAA10 variant c.386A>C has been identified in a female with contractures at the major joints, spasticity, and dysconjugate gaze. Mutation does not impair NAA10-NAA15 binding but and displays almost complete loss of monomeric NAA10 N-acteyltransferase function Homo sapiens
R79C NAA10 variant c.235C>T has been identified in several male family members with intelectual disability. Mutation does not impair NAA10-NAA15 binding and displays a moderate reduction in monomeric NAA10 N-acteyltransferase function Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P41227 AND Q9BXJ9 P41227 i.e. catalytic subunit NAA10, Q9BXJ9 i.e. auxiliary subunit NAA15
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Synonyms

Synonyms Comment Organism
NAA10
-
 Homo sapiens
NAA15
-
 Homo sapiens
NatA
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction variant c.16G>C p.(A6P) has been identified in a male with intelectual disability and hypertrophic cardiomyopathy. Variant c.235C>T p.(R79C) has been identified in several male family members with intelectual disability.Variant c.386A>C p.(Q129P) has been identified in a female with contractures at the major joints, spasticity, and dysconjugate gaze. Variant c.469G>A p.(E157K) has been identified in a baby girl with cerebellar vermian hypoplasia with cystic dilatation of the 4th ventricle, a left pneumothorax and a heart murmur. Variant c.384T>G p.(F128L) has been identified in a boy with mixed specific developmental disorder Homo sapiens