All transcript variants in gene PGAP3

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

80 entries on 1 page. Showing entries 1 - 80.
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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     
?/. - c.-39951del VUS r.(?) p.(=) g.37884223del - ERBB2(NM_001289936.1):c.3649delG (p.A1217Lfs*70) - ERBB2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-39909G>T likely benign r.(?) p.(=) g.37884176C>A - ERBB2(NM_001005862.1):c.3557C>A (p.(Ala1186Asp), p.(Ala1216Asp)) - ERBB2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-39770G>C benign r.(?) p.(=) g.37884037C>G - ERBB2(NM_001005862.2):c.3418C>G (p.P1140A) - ERBB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-37694A>C likely benign r.(?) p.(=) g.37881961T>G - ERBB2(NM_001289936.1):c.2682T>G (p.G894=) - ERBB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-35318T>C likely benign r.(?) p.(=) g.37879585A>G - ERBB2(NM_001005862.1):c.1870A>G (p.(Ile624Val), p.(Ile654Val)) - ERBB2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-27878G>A VUS r.(?) p.(=) g.37872145C>T - ERBB2(NM_001289936.1):c.1421C>T (p.P474L) - ERBB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-27447G>A VUS r.(?) p.(=) g.37871714C>T - ERBB2(NM_001289936.1):c.1193C>T (p.S398L) - ERBB2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-27280G>T likely benign r.(?) p.(=) g.37871547C>A - ERBB2(NM_001289936.1):c.1112C>A (p.A371D) - ERBB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-24448G>A benign r.(?) p.(=) g.37868715C>T - ERBB2(NM_001005862.2):c.1058+14C>T - ERBB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-21866G>C likely benign r.(?) p.(=) g.37866133C>G - ERBB2(NM_001289936.1):c.597C>G (p.S199R) - ERBB2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.175C>G likely benign r.(?) p.(Leu59Val) g.37844093G>C - PGAP3(NM_033419.3):c.175C>G (p.(Leu59Val)) - ERBB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.275G>A - r.(?) p.(Gly92Asp) g.37842179C>T g.39685926C>T - - PGAP3_000001 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. PubMed: Howard et al. 2014 - rs587777251 Germline yes - - 0 - Philippe Campeau
+/. 3 c.314C>A - r.(?) p.(Pro105Gln) g.37840968G>T - - - PGAP3_000022 Missense variant. This mutation was predicted as pathogenic by the in silico software: SIFT=0, PolyPhen2=1, and MutationTaster=disease causing. This new mutation was inherited from both unaffected carrier parents. - - - Germline - - - 0 - Philippe Campeau
+/. - c.314C>G - r.(?) p.(Pro105Arg) g.37840968G>C g.39684715G>C - - PGAP3_000004 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. PubMed: Howard et al. 2014 - rs371549948 Germline yes - - 0 - Philippe Campeau
+?/. - c.320C>T - r.(?) p.(Ser107Leu) g.37840962G>A - - - PGAP3_000011 - PubMed: Knaus et al. 2016 - - Unknown - - - 0 - Philippe Campeau
+?/. - c.320C>T - r.(?) p.(Ser107Leu) g.37840962G>A - - - PGAP3_000011 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.320C>T - r.(?) p.(Ser107Leu) g.37840962G>A - - - PGAP3_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.320C>T - r.(?) p.(Ser107Leu) g.37840962G>A - - - PGAP3_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+/. 2 c.320C>T - r.(?) p.(Ser107Leu) g.37840962G>A - - - PGAP3_000011 Missense mutation. The wild type S107 residue is more hydrophobic and smaller than the mutant residue. This mutation will affect the hydrophobic interactions with the lipid membrane and protein function. - - - Germline - - - 0 - Philippe Campeau
+/. 2 c.320C>T - r.(?) p.(Ser107Leu) g.37840962G>A - - - PGAP3_000011 Missense mutation. The wild type S107 residue is more hydrophobic and smaller than the mutant residue. This mutation will affect the hydrophobic interactions with the lipid membrane and protein function. - - - Germline - - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.402dupC - r.(?) p.(Met135Hisfs*28) g.37840880dupG - - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
-?/. - c.404T>C likely benign r.(?) p.(Met135Thr) g.37840878A>G - PGAP3(NM_033419.3):c.404T>C (p.(Met135Thr)) - PGAP3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.439dup - r.(?) p.(Leu147Profs*16) g.37830926dup g.39674673dup - - PGAP3_000003 In vitro functional expression studies in CHO cells showed that the mutant c.439dupC mutant had no residual enzyme activity, and was likely degraded by nonsense-mediated mRNA decay. Flow cytometric analysis of patient cells showed a reduction in the cell surface levels of GPI-anchored proteins. PubMed: Howard et al. 2014 - - Germline yes - - 0 - Philippe Campeau
?/. - c.496-9_496-8insCAGAGTA VUS r.(=) p.(=) g.37830315_37830316insTACTCTG - PGAP3(NM_033419.4):c.496-9_496-8insCAGAGTA (r.spl?) - PGAP3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 5 c.507C>A - r.(?) p.(Tyr169*) g.37830296G>T - - - PGAP3_000021 Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD) - - - Germline - - - 0 - Philippe Campeau
+/. 5 c.507C>A - r.(?) p.(Tyr169*) g.37830296G>T - - - PGAP3_000021 Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD) - - - Germline - - - 0 - Philippe Campeau
+?/. - c.511T>C - r.(?) p.(Cys171Arg) g.37830292A>G - - - PGAP3_000017 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.558-10G>A - r.(=) p.(=) g.37829913C>T - - - PGAP3_000012 - PubMed: Knaus et al. 2016 - - Unknown - - - 0 - Philippe Campeau
+?/. - c.558-10G>A - r.(=) p.(=) g.37829913C>T - - - PGAP3_000012 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
?/. - c.715_717del VUS r.(?) p.(Trp239del) g.37829490_37829492del - PGAP3(NM_033419.4):c.715_717del (p.Trp239del) - PGAP3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.817_820delGACT - r.(?) p.(Asp273Serfs*37) g.37829383_37829386delAGTC - - - PGAP3_000019 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
?/. - c.827C>T VUS r.(?) p.(Pro276Leu) g.37829376G>A - PGAP3(NM_033419.4):c.827C>T (p.P276L) - PGAP3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+? - c.827C>T - r.(?) p.(Pro276Leu) g.37829376G>A - - - PGAP3_000006 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.842T>C - r.(?) p.(Leu281Pro) g.37829361A>G - - - PGAP3_000018 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.845A>G - r.(?) p.(Asp282Gly) g.37829358T>C - - - PGAP3_000016 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.845A>G - r.(?) p.(Asp282Gly) g.37829358T>C - - - PGAP3_000016 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
?/. - c.850C>T VUS r.(?) p.(His284Tyr) g.37829353G>A - PGAP3(NM_033419.4):c.850C>T (p.His284Tyr) - PGAP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.850C>T - r.(?) p.(His284Tyr) g.37829353G>A - - - PGAP3_000008 Mutation is heterozygous in the available parents. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. 7 c.850C>T - r.(?) p.(His284Tyr) g.37829353G>A - - - PGAP3_000008 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. 7 c.850C>T - r.(?) p.(His284Tyr) g.37829353G>A - - - PGAP3_000008 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. 7 c.850C>T - r.(?) p.(His284Tyr) g.37829353G>A - - - PGAP3_000008 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+?/. 7 c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 - PubMed: Nampoothiri et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. 7 c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 - PubMed: Nampoothiri et al. 2017 - - Germline - - - 0 - Philippe Campeau
+/. - c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. - c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. - c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. - c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. - c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. 7 c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. 7 c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. 7 c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau
+/. - c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 - - - - De novo - - - 0 - Philippe Campeau
+/. - c.851A>G - r.(?) p.(His284Arg) g.37829352T>C - - - PGAP3_000020 - - - - De novo - - - 0 - Philippe Campeau
+?/. - c.861G>T - r.(?) p.(Trp287Cys) g.37829342C>A - - - PGAP3_000014 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.861G>T - r.(?) p.(Trp287Cys) g.37829342C>A - - - PGAP3_000014 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+/. 8 c.914A>G - r.(?) p.(Asp305Gly) 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) g.37829105T>C - - - PGAP3_000002 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.914A>G - r.(?) p.(Asp305Gly) g.37829105T>C - - - PGAP3_000002 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.914A>G - r.(?) p.(Asp305Gly) g.37829105T>C - - - PGAP3_000002 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.924C>A ACMG: 4 r.(?) p.(Tyr308*) g.37829095G>T g.39672842G>T - - PGAP3_000005 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
+?/. - c.*559C>T - r.(=) p.(=) g.37828497G>A - - - PGAP3_000015 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.*559C>T - r.(=) p.(=) g.37828497G>A - - - PGAP3_000015 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
?/. - c.*2737C>G VUS r.(=) p.(=) g.37826319G>C - PNMT(NM_002686.4):c.526G>C (p.(Asp176His)) - PNMT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*3058G>A likely benign r.(=) p.(=) g.37825998C>T - PNMT(NM_002686.4):c.319C>T (p.(Arg107Cys)) - PGAP3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*4175G>A likely benign r.(=) p.(=) g.37824881C>T - PNMT(NM_002686.4):c.153C>T (p.(=)) - PGAP3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*6299G>T benign r.(=) p.(=) g.37822757C>A - TCAP(NM_003673.3):c.*395C>A - PGAP3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*6317C>G likely benign r.(=) p.(=) g.37822739G>C - TCAP(NM_003673.3):c.*377G>C - TCAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*6495C>A likely benign r.(=) p.(=) g.37822561G>T - TCAP(NM_003673.3):c.*199G>T - TCAP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*6616A>C benign r.(=) p.(=) g.37822440T>G - TCAP(NM_003673.3):c.*78T>G - PGAP3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*6618C>A likely benign r.(=) p.(=) g.37822438G>T - TCAP(NM_003673.3):c.*76G>T - TCAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*6618C>A likely benign r.(=) p.(=) g.37822438G>T - TCAP(NM_003673.3):c.*76G>T - TCAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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