All variants in the PGAP3 gene

Information The variants shown are described using the NM_033419.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 8 c.914A>G r.(?) p.(Asp305Gly) - pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 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. PubMed: Howard et al. 2014 - rs587777252 Germline yes - - 0 - Philippe Campeau
+?/. - c.914A>G r.(?) p.(Asp305Gly) - likely pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.914A>G r.(?) p.(Asp305Gly) - likely pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.914A>G r.(?) p.(Asp305Gly) - likely pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
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