Variant #0000048344 (NC_000017.10:g.37842179C>T, PGAP3(NM_033419.3):c.275G>A)

Individual ID 00025462
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.37842179C>T
DNA change (hg38) g.39685926C>T
Published as -
ISCN -
DB-ID PGAP3_000001
Variant remarks This mutation causes a substitution at a highly conserved residue in a juxtamembrane position on the luminal side. This mutation was absent in the Exome Variant Server, dbSNP (build 137), or 1000 Genomes Project databases, or in 108 ethnically matched controls. CHO cells showed that the mutant G92D protein had almost no or absent enzyme activity. Mutant PGAP3 cDNA bearing G92D did not reduce or reduced only slightly the surface levels of CD59, CD55 and uPAR indicating that the substitution caused a null or nearly null phenotype.
Reference PubMed: Howard et al. 2014
ClinVar ID -
dbSNP ID rs587777251
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGAP3 NM_033419.3 +/. - c.275G>A r.(?) p.(Gly92Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025464 DNA SEQ-NG - - PGAP3 1 Philippe Campeau