Variant #0000048345 (NC_000017.10:g.37829105T>C, PGAP3(NM_033419.3):c.914A>G)

Individual ID 00025463
Chromosome 17
Allele Maternal (confirmed)
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.37829105T>C
DNA change (hg38) g.39672852T>C
Published as -
ISCN -
DB-ID PGAP3_000002 See all 4 reported entries
Variant remarks CHO cell line defective in both PGAP3 have GPI-APs at mildly reduced levels because of a lack of GPI fatty acid remodelling. When wild-type PGAP3 cDNA was transfected, the first step in the fatty acid remodelling was restored, whereas the second step remained defective, leading to the release of lyso-GPI intermediates and resulting in a severe reduction in the surface levels of GPI-APs. Mutant PGAP3 cDNA bearing the mutation p.Asp305Gly significantly reduced levels of all three GPI-APs, indicating some residual activity. The p.Asp305Gly protein was readily detectable but had immature N-glycan and was mislocalized in the ER by immunoblot.
Reference PubMed: Howard et al. 2014
ClinVar ID -
dbSNP ID rs587777252
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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 +/. 8 c.914A>G r.(?) p.(Asp305Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025465 DNA SEQ-NG - - PGAP3 2 Philippe Campeau