Genomic variant #0000024658

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45795034A>C
Published as -
Reference Hirano 2003
DB-ID MUTYH_000206 See all 2 reported entries
Frequency -
Variant remarks PCNA binding assay; mMUTYH containing 500/501FF changed to 500/501AA; PCNA pull down assay; No binding to PCNA (WT mMUTYH binds to PCNA)
Genetic origin In vitro (cloned)
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Astrid Out




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Consequence_Predicted     

ID     

InSiGHT Class     

Protein/Domain     

Splicing/transcript expression     
MUTYH NM_001128425.1 ?/? 16 c.1594T>G - p.Phe532Ala - 12917422_binding_F532A_F533A - PCNA binding motif -