Full data view for gene PGAP1

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

18 entries on 1 page. Showing entries 1 - 18.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.274_276del - r.(?) p.(Pro92del) Paternal (confirmed) g.197784746_197784748del g.196920022_196920024del - - PGAP1_000001 variant heterozygous in sister PubMed: Bosch 2015, Journal: Bosch 2015, dear8LOV - - Germline - - - 0 - DNA PCR, SEQ, SEQ-NG - - CVI, ID 26350515-Pat12 PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - M ? Netherlands caucasian - 0 - - 1 Danielle Bosch
+?/. - c.334_335insA - r.(?) p.(Ala112Aspfs*5) Maternal (confirmed) g.197781284_197781285insT - - - PGAP1_000010 - PubMed: Kettwig et al. 2016 - - Germline - - - 0 - DNA SEQ-NG - WES ? II-1 PubMed: Kettwig 2016 - M no - Caucasian - 0 - - 2 Philippe Campeau
+?/. - c.334_335insA - r.(?) p.(Ala112Aspfs*5) Maternal (confirmed) g.197781284_197781285insT - - - PGAP1_000010 - PubMed: Kettwig et al. 2016 - - Germline - - - 0 - DNA SEQ-NG - WES - II-2 PubMed: Kettwig 2016 dizygotic twins with ID00155047 M no - Caucasian - 0 - - 1 Philippe Campeau
+/+ - c.589_591delCTT - r.(?) p.(Leu197del) Both (homozygous) 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 - DNA SEQ-NG - - MRT-42;GPIBD-9 - PubMed: Murakami 2014 Two siblings,4 and 2-year-old, with mental retardation. - yes Syria African - 0 - - 1 Philippe Campeau
-?/. 7 c.914C>T - r.(?) p.(Ala305Val) Maternal (confirmed) g.197761868C>T g.196897144G>A - - PGAP1_000002 - PubMed: Bosch 2015, Journal: Bosch 2015 - - Germline - - - 0 - DNA PCR, SEQ, SEQ-NG - - CVI, ID 26350515-Pat12 PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - M ? Netherlands caucasian - 0 - - 1 Danielle Bosch
-?/. - c.914C>T likely benign r.(?) p.(Ala305Val) Unknown g.197761868G>A - PGAP1:c.914C>T (A305V) - PGAP1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.921_925del - r.(?) p.(Lys308Asnfs*25) Maternal (confirmed) 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 - DNA PCR, SEQ, SEQ-NG - - CVI, ID 26350515-Pat12 PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - M ? Netherlands caucasian - 0 - - 1 Danielle Bosch
+?/. - c.1090-2A>G - r.spl? p.? Both (homozygous) g.197755637T>C - - - PGAP1_000012 - PubMed: Granzow et al. 2015 - - Germline - - - 0 - DNA SEQ-NG peripheral blood WES - Patient_1 PubMed: Granzow 2015 - F yes Turkey - - 0 - - 2 Philippe Campeau
+?/. - c.1090-2A>G - r.spl? p.? Both (homozygous) g.197755637T>C - - - PGAP1_000012 - PubMed: Granzow et al. 2015 - - Germline - - - 0 - DNA SEQ-NG peripheral blood WES - Patient_2 PubMed: Granzow 2015 - M yes Turkey - - 0 - - 1 Philippe Campeau
+?/. - c.1173G>C - r.(=) p.(=) Paternal (confirmed) g.197755552C>G - - - PGAP1_000011 - PubMed: Kettwig et al. 2016 - - Germline - - - 0 - DNA SEQ-NG - WES ? II-1 PubMed: Kettwig 2016 - M no - Caucasian - 0 - - 2 Philippe Campeau
+?/. - c.1173G>C - r.(=) p.(=) Paternal (confirmed) g.197755552C>G - - - PGAP1_000011 - PubMed: Kettwig et al. 2016 - - Germline - - - 0 - DNA SEQ-NG - WES - II-2 PubMed: Kettwig 2016 dizygotic twins with ID00155047 M no - Caucasian - 0 - - 1 Philippe Campeau
?/. - c.1271A>G VUS r.(?) p.(Lys424Arg) Unknown g.197750149T>C - PGAP1:NM_024989.3:c.1271A>G (Lys424Arg / r.(spl?) - PGAP1_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1396C>T - r.(?) p.(Gln466*) Maternal (confirmed) g.197740500G>A - - - PGAP1_000014 - PubMed: Williams et al. 2015 - - Germline - - - 0 - DNA SEQ-NG - WES - - PubMed: Williams 2015 - M no - - - 0 - - 1 Philippe Campeau
+?/. - c.1572T>A - r.(?) p.(Tyr524*) Paternal (confirmed) g.197737731A>T - - - PGAP1_000013 - PubMed: Williams et al. 2015 - - Germline - - - 0 - DNA SEQ-NG - WES - - PubMed: Williams 2015 - M no - - - 0 - - 1 Philippe Campeau
+/. - c.1952+1G>T - r.spl? p.? Both (homozygous) 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 - DNA SEQ-NG - - MRT-42;GPIBD-9 - PubMed: Novarino 2014 4-generation family, 2 affected siblings (9m, 6y) with spastic paraplegia, unaffected heterozygous carrier parents M yes ? (unknown) Middle East - 0 - - 2 Philippe Campeau
-?/. - c.2189C>T likely benign r.(?) p.(Pro730Leu) Unknown g.197710703G>A - PGAP1:NM_024989.3:c.2189C>T - PGAP1_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2335G>A likely benign r.(?) p.(Val779Met) Unknown g.197709250C>T - PGAP1:NM_024989.3:c.2335G>A - PGAP1_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2349delinsATAATCCCAAACAA ACMG: 4 r.(?) p.(His783Glnfs*2) Both (homozygous) g.197708788delinsTTGTTTGGGATTAT g.196844064delinsTTGTTTGGGATTAT - - PGAP1_000006 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MRT-42;GPIBD-9 - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
Legend