All transcript variants in gene PGAP1

Information The variants shown are described using the NM_024989.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.274_276del - r.(?) p.(Pro92del) g.197784746_197784748del g.196920022_196920024del - - PGAP1_000001 variant heterozygous in sister PubMed: Bosch 2015, Journal: Bosch 2015, dear8LOV - - Germline - - - 0 - Danielle Bosch
?/. - c.331A>G VUS r.(?) p.(Lys111Glu) g.197781288T>C - PGAP1(NM_024989.3):c.331A>G (p.(Lys111Glu)) - PGAP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.334_335insA - r.(?) p.(Ala112Aspfs*5) g.197781284_197781285insT - - - PGAP1_000010 - PubMed: Kettwig et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.334_335insA - r.(?) p.(Ala112Aspfs*5) g.197781284_197781285insT - - - PGAP1_000010 - PubMed: Kettwig et al. 2016 - - Germline - - - 0 - Philippe Campeau
+/. - c.427C>T pathogenic r.(?) p.(Gln143*) g.197781192G>A - PGAP1(NM_024989.3):c.427C>T (p.(Gln143*)) - PGAP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ - c.589_591delCTT - r.(?) p.(Leu197del) g.197777664_197777666delAAG g.196912940_196912942delAAG - - PGAP1_000005 The mutation was not found in in 372 healthy Syrian adults using Sanger sequencing. Molecular modeling showed that this mutation disrupts the packing of the hydrophobic core and consequently of the entire β-sheet topology, thus leading to a loss of tertiary structure and enzymatic activity. Surface expression of GPI-APs on B-lymphoblastoid cell lines derived from an affected person, parents and controls showed no significant difference. Structural abnormality of GPI-anchors was tested. All GPI-APs on the affected LCLs had abnormal GPI anchors resistant to PI-PLC. This is an indication that the p.Leu197del mutation causes null or almost null activity of the PGAP1 enzyme. GPI-APs on LCLs from heterozygous parents were only partially sensitive to PI-PLC indicating haploinsufficiency. These defective sensitivities were restored by wt-PGAP1 cDNA transfection. PubMed: Murakami et al. 2014 - rs587777378 Germline yes - - 0 - Philippe Campeau
-?/. - c.906T>C likely benign r.(?) p.(=) g.197761876A>G - PGAP1(NM_001321099.1):c.384T>C (p.L128=) - PGAP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 7 c.914C>T - r.(?) p.(Ala305Val) g.197761868C>T g.196897144G>A - - PGAP1_000002 - PubMed: Bosch 2015, Journal: Bosch 2015 - - Germline - - - 0 - Danielle Bosch
-?/. - c.914C>T likely benign r.(?) p.(Ala305Val) g.197761868G>A - PGAP1(NM_024989.3):c.914C>T (p.A305V) - PGAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 7 c.921_925del - r.(?) p.(Lys308Asnfs*25) g.197761857_197761861del g.196897133_196897137del - - PGAP1_000003 variant not present in sister PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - 0 - Danielle Bosch
?/. - c.1089+1G>A VUS r.(?) p.() g.197757069C>T - - - PGAP1_000016 - - - - Unknown - - - 0 - IMGAG
?/. - c.1089+5delG VUS r.(?) p.() g.197757065del - - - PGAP1_000015 - - - - Unknown - - - 0 - IMGAG
+?/. - c.1090-2A>G - r.spl? p.? g.197755637T>C - - - PGAP1_000012 - PubMed: Granzow et al. 2015 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1090-2A>G - r.spl? p.? g.197755637T>C - - - PGAP1_000012 - PubMed: Granzow et al. 2015 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1173G>C - r.(=) p.(=) g.197755552C>G - - - PGAP1_000011 - PubMed: Kettwig et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1173G>C - r.(=) p.(=) g.197755552C>G - - - PGAP1_000011 - PubMed: Kettwig et al. 2016 - - Germline - - - 0 - Philippe Campeau
+/. - c.1271A>G pathogenic r.(?) p.(Lys424Arg) g.197750149T>C - PGAP1(NM_024989.3):c.1271A>G (p.Lys424Arg / r.(spl?)) - PGAP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. 14 c.1370T>G likely pathogenic r.(?) p.(Phe457Cys) g.197740526A>C g.196875802A>C - - PGAP1_000026 - - - - Germline yes - - 0 - Isabel Filges
+?/. 14 c.1370T>G likely pathogenic r.(1370u>g) p.(Phe457Cys) g.197740526A>C g.196875802A>C - - PGAP1_000026 - - - - Germline yes - - 0 - Isabel Filges
+?/. - c.1396C>T - r.(?) p.(Gln466*) g.197740500G>A - - - PGAP1_000014 - PubMed: Williams et al. 2015 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1572T>A - r.(?) p.(Tyr524*) g.197737731A>T - - - PGAP1_000013 - PubMed: Williams et al. 2015 - - Germline - - - 0 - Philippe Campeau
?/. - c.1729-4C>T VUS r.spl? p.? g.197735707G>A - PGAP1(NM_024989,3):c.1729-4C>T (r.spl.?) - PGAP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1753C>G likely benign r.(?) p.(Gln585Glu) g.197735679G>C - PGAP1(NM_024989.3):c.1753C>G (p.(Gln585Glu)) - PGAP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1787G>T likely benign r.(?) p.(Gly596Val) g.197729785C>A - PGAP1(NM_024989.3):c.1787G>T (p.(Gly596Val)) - PGAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1952+1G>T - r.spl? p.? g.197712670C>A g.196847946C>A - - PGAP1_000004 Functional validation in a knockdown model in zebrafish was performed. Morphants were phenotyped for touch-induced and spontaneous locomotion behavior. Average touch-response distance was blunted in 72-hpf larvae. Immediate touch-response trajectory was reduced. Representative kymographs recording fish position over 30-min recording showed reduced movements per recording. PubMed: Novarino et al. - rs587777202 Germline yes - - 0 - Philippe Campeau
?/. - c.2189C>T VUS r.(?) p.(Pro730Leu) g.197710703G>A - PGAP1(NM_024989.3):c.2189C>T (p.(Pro730Leu)) - PGAP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2306G>A likely benign r.(?) p.(Ser769Asn) g.197709279C>T - PGAP1(NM_001321099.1):c.1784G>A (p.S595N) - PGAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2335G>A VUS r.(?) p.(Val779Met) g.197709250C>T - PGAP1(NM_024989.3):c.2335G>A (p.(Val779Met)) - PGAP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.2349delinsATAATCCCAAACAA ACMG: 4 r.(?) p.(His783Glnfs*2) g.197708788delinsTTGTTTGGGATTAT g.196844064delinsTTGTTTGGGATTAT - - PGAP1_000006 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
-?/. - c.2408G>A likely benign r.(?) p.(Arg803His) g.197708729C>T - PGAP1(NM_024989.3):c.2408G>A (p.(Arg803His)) - PGAP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2674G>A likely benign r.(?) p.(Val892Ile) g.197706053C>T - PGAP1(NM_024989.3):c.2674G>A (p.(Val892Ile)) - PGAP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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