GLA c.1061T>A ;(p.I354K)

Variant ID: X-100653026-A-T

NM_000169.2(GLA):c.1061T>A;(p.I354K)

This variant was identified in 7 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Journal Of Medical Genetics
Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG
Publication Date: 2020-08

Variant appearance in text: GLA: Ile354Lys
PubMed Link: 32161151
Variant Present in the following documents:
  • jmedgenet-2019-106467supp001.pdf
View BVdb publication page


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: I354K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page


Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal Of Molecular Sciences
Duro, Giovanni G; Zizzo, Carmela C; Cammarata, Giuseppe G; Burlina, Alessandro A; Burlina, Alberto A; Polo, Giulia G; Scalia, Simone S; Oliveri, Roberta R; Sciarrino, Serafina S; Francofonte, Daniele D; Alessandro, Riccardo R; Pisani, Antonio A; Palladino, Giuseppe G; Napoletano, Rosa R; Tenuta, Maurizio M; Masarone, Daniele D; Limongelli, Giuseppe G; Riccio, Eleonora E; Frustaci, Andrea A; Chimenti, Cristina C; Ferri, Claudio C; Pieruzzi, Federico F; Pieroni, Maurizio M; Spada, Marco M; Castana, Cinzia C; Caserta, Marina M; Monte, Ines I; Rodolico, Margherita Stefania MS; Feriozzi, Sandro S; Battaglia, Yuri Y; Amico, Luisa L; Losi, Maria Angela MA; Autore, Camillo C; Lombardi, Marco M; Zoccali, Carmine C; Testa, Alessandra A; Postorino, Maurizio M; Mignani, Renzo R; Zachara, Elisabetta E; Giordano, Antonello A; Colomba, Paolo P
Publication Date: 2018-11-23

Variant appearance in text: GLA: I354K
PubMed Link: 30477121
Variant Present in the following documents:
  • Main text
View BVdb publication page


Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports
Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K
Publication Date: 2018-12

Variant appearance in text: GLA: 1061T>A; I354K
PubMed Link: 30386727
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.

Plos One
Liguori, Rocco R; Incensi, Alex A; de Pasqua, Silvia S; Mignani, Renzo R; Fileccia, Enrico E; Santostefano, Marisa M; Biagini, Elena E; Rapezzi, Claudio C; Palmieri, Silvia S; Romani, Ilaria I; Borsini, Walter W; Burlina, Alessandro A; Bombardi, Roberto R; Caprini, Marco M; Avoni, Patrizia P; Donadio, Vincenzo V
Publication Date: 2017

Variant appearance in text: GLA: 1061T>A; I354K
PubMed Link: 28672034
Variant Present in the following documents:
  • Main text
  • pone.0180581.pdf
View BVdb publication page


Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.

Molecular Genetics And Metabolism Reports
Tsukimura, Takahiro T; Nakano, Sachie S; Togawa, Tadayasu T; Tanaka, Toshie T; Saito, Seiji S; Ohno, Kazuki K; Shibasaki, Futoshi F; Sakuraba, Hitoshi H
Publication Date: 2014

Variant appearance in text: GLA: I354K
PubMed Link: 27896103
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.

Plos One
Sueoka, Hideaki H; Ichihara, Junji J; Tsukimura, Takahiro T; Togawa, Tadayasu T; Sakuraba, Hitoshi H
Publication Date: 2015

Variant appearance in text: GLA: I354K
PubMed Link: 25965380
Variant Present in the following documents:
  • Main text
  • pone.0127048.pdf
View BVdb publication page