All transcript variants in gene PGAP2

Information The variants shown are described using the NM_001256240.1 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+?/. 2 c.2T>G - r.? p.? g.3832491T>G - - - PGAP2_000010 - PubMed: Jezela-Stanek et al. 2016 - - Germline - - - 0 - Philippe Campeau
+/. - c.46C>T - r.(?) p.(Arg16Trp) g.3832535C>T g.3811305C>T - - PGAP2_000003 Substitution in a highly conserved residue. Transfection with protein construct showed partial restoration of GPI-anchored marker proteins. Higer residual activity with this mutation. PubMed: Krawitz et al 2013 - - Germline yes - - 0 - Philippe Campeau
?/. - c.53G>A VUS r.(?) p.(Arg18His) g.3832542G>A - PGAP2(NM_001256236.1):c.224G>A (p.R75H) - NUP98_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.165+5945T>C VUS r.(=) p.(=) g.3838599T>C - PGAP2(NM_001256236.1):c.353T>C (p.M118T) - PGAP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.165+6112G>A VUS r.(=) p.(=) g.3838766G>A - PGAP2(NM_001256236.1):c.519+1G>A - PGAP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.191C>T - r.? p.(Ala64Val) g.3845138C>T - c.191C>T - PGAP2_000012 - PubMed: Naseer et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.191C>T - r.? p.(Ala64Val) g.3845138C>T - c.191C>T - PGAP2_000012 - PubMed: Naseer et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. 3 c.221G>A - r.(?) p.(Arg74His) g.3845168G>A - - - PGAP2_000011 - PubMed: Jezela-Stanek et al. 2016 - - Germline - - - 0 - Philippe Campeau
./. - c.296A>G - r.(?) p.(Tyr99Cys) g.3845243A>G g.3824013A>G - - PGAP2_000001 Rescue experiments with the altered proteins in PGAP2-deficient Chinese hamster ovary cell lines showed less expression of cell-surface GPI-anchored proteins DAF and CD59 than of the wild-type protein. atient lymphoblastoid cells showed essentially normal expression of the GPI-anchored proteins supporting a hypomorphic effect of this mutation. PubMed: Hansen et al. 2013 - - Germline yes - - 0 - Philippe Campeau
+/. - c.380T>C - r.(?) p.(Leu127Ser) g.3845327T>C g.3824097T>C - - PGAP2_000005 Substitution at highly conserved residue. Transfection of the altered protein constructsinto PGAP2-null cells showed only partial restoration of GPI-anchored marker proteins, CD55 and CD59, on the cell surface. PubMed: Krawitz et al 2013 - - Germline yes - - 0 - Philippe Campeau
+/. - c.479C>T - r.(?) p.(Thr160Ile) g.3845560C>T g.3824330C>T - - PGAP2_000004 Sustitution at highly conserved residue. Transfection of altered protein construct showed partial restoration of GPI-anchored marker proteins. PubMed: Krawitz et al 2013 - - Germline yes - - 0 - Philippe Campeau
?/. - c.525+71C>T VUS r.(=) p.(=) g.3845677C>T - PGAP2(NM_001256237.1):c.767C>T (p.S256L) - PGAP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.530G>C - r.(?) p.(Arg177Pro) g.3846254G>C g.3825024G>C - - PGAP2_000002 Substitution between transmembrane segments 3 and 4 in the Golgi lumen. Predicted to be pathogenic. In vitro CHO cells study showed that the mutant protein was expressed but had significantly decreased activity compared to wildtype. Lymphoblastoid cells of patient showed normal levels of DAF and CD59, which suggest a hypomorphic effect. PubMed: Hansen et al 2013 - - Germline yes - - 0 - Philippe Campeau
+/. - c.554G>A - r.(?) p.(Arg185Gln) g.3846278G>A - NM_001256240.1:c.554G>A, p.(Arg185Gln) - PGAP2_000013 The mutation replaces a highly conserved arginine residue with glutamine within the Frag1 (FGF receptor activating) domain of PGAP2. The mutation was also found to be possibly damaging by Polyphen-2 predictions with a score of 0.942. - - rs745521288 Germline - 0.00000824 in dbSNP. In ExAC database: allele frequency of 0.000008122 - 0 - Philippe Campeau
+/. - c.554G>A - r.(?) p.(Arg185Gln) g.3846278G>A - NM_001256240.1:c.554G>A, p.(Arg185Gln) - PGAP2_000013 The mutation replaces a highly conserved arginine residue with glutamine within the Frag1 (FGF receptor activating) domain of PGAP2. The mutation was also found to be possibly damaging by Polyphen-2 predictions with a score of 0.942. - - rs745521288 Germline - 0.00000824 in dbSNP. In ExAC database: allele frequency of 0.000008122 - 0 - Philippe Campeau
+/. - c.554G>A - r.(?) p.(Arg185Gln) g.3846278G>A - NM_001256240.1:c.554G>A, p.(Arg185Gln) - PGAP2_000013 The mutation replaces a highly conserved arginine residue with glutamine within the Frag1 (FGF receptor activating) domain of PGAP2. The mutation was also found to be possibly damaging by Polyphen-2 predictions with a score of 0.942. - - rs745521288 Germline - 0.00000824 in dbSNP. In ExAC database: allele frequency of 0.000008122 - 0 - Philippe Campeau
+/. - c.554G>A - r.(?) p.(Arg185Gln) g.3846278G>A - NM_001256240.1:c.554G>A, p.(Arg185Gln) - PGAP2_000013 The mutation replaces a highly conserved arginine residue with glutamine within the Frag1 (FGF receptor activating) domain of PGAP2. The mutation was also found to be possibly damaging by Polyphen-2 predictions with a score of 0.942. - - rs745521288 Germline - 0.00000824 in dbSNP. In ExAC database: allele frequency of 0.000008122 - 0 - Philippe Campeau
+/. - c.560C>T - r.(?) p.Ala187Val g.3846284C>T - - - PGAP2_000014 SIFT=deleterious, Polyphen-2=Probably damaging , CADD score=23.3 - - - Germline - - - 0 - Philippe Campeau
?/. - c.567C>T VUS r.(?) p.(=) g.3846291C>T - PGAP2(NM_001256237.1):c.817C>T (p.Q273*) - NUP98_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.631G>C VUS r.(?) p.(Gly211Arg) g.3846355G>C - PGAP2(NM_001256235,NM_001145438,NM_001256236,NR_045927,NM_001283040,NM_001256237,NR_045926,NR_045925,NR_045923,NR_104271,NR_104270,NM_001283038,NM...) - NUP98_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.635T>C VUS r.(?) p.(Val212Ala) g.3846558T>C - PGAP2(NM_001256236.1):c.989T>C (p.V330A) - PGAP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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