2024-03-28 TRAP1 - NM_016292.3 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID Exon 4 R128H p.(Arg128His) c.383G>A substitution 1 G>A Likely pathogenic YES YES Culture studies Loss of function Sequencing Sanger Sequencing NGS Symptomatic Non symptomatic Undefined-AID Unknown Unknown Pakistan/Asian 2020-02-13 Publication (PubMed PMID): 31882397 Exon 9 R316H p.(Arg316His) c.947G>A substitution 1 G>A Likely pathogenic YES YES Culture studies Loss of function Sequencing Sanger Sequencing NGS Symptomatic Undefined-AID Unknown Unknown United kingdom/Caucasian 2020-02-13 Publication (PubMed PMID): 31882397 Exon 12 Y444N p.(Tyr444Asn) c.1330T>A substitution 1 T>A Likely pathogenic YES YES Culture studies Loss of function Sequencing Sanger Sequencing NGS Symptomatic Undefined-AID Unknown Unknown United kingdom/Caucasian 2020-02-13 Publication (PubMed PMID): 31882397