Variant #0000048348 (NC_000017.10:g.37840968G>C, PGAP3(NM_033419.3):c.314C>G)

Individual ID 00025464
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.37840968G>C
DNA change (hg38) g.39684715G>C
Published as -
ISCN -
DB-ID PGAP3_000004
Variant remarks Substitution at a highly conserved residue in the first transmembrane domain. The mutation was absent in 52 Arabic controls or in the Exome Variant Server database. CHO cells showed that the mutant P105R protein had low residual enzyme activity. Electrophoresis and immunoblotting studies showed that the P105R protein had only immature ER-form N-glycan and did not localize properly to the Golgi, but was retained in the ER.
Reference PubMed: Howard et al. 2014
ClinVar ID -
dbSNP ID rs371549948
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGAP3 NM_033419.3 +/. - c.314C>G r.(?) p.(Pro105Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025466 DNA SEQ-NG - - PGAP3 1 Philippe Campeau