GLA c.1228A>G ;(p.T410A)

Variant ID: X-100652859-T-C

NM_000169.2(GLA):c.1228A>G;(p.T410A)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.

Open Heart
Valtola, Kati K; Hedman, Marja M; Kantola, Ilkka I; Walls, Susanne S; Helisalmi, Seppo S; Maria, Maleeha M; Raivo, Joose J; Auray-Blais, Christiane C; Kuusisto, Johanna J
Publication Date: 2023-03

Variant appearance in text: GLA: T410A
PubMed Link: 36927868
Variant Present in the following documents:
  • Main text
  • openhrt-2023-002251supp001.pdf
  • openhrt-2023-002251.pdf
View BVdb publication page



The Impact of Kidney Biopsy for Fabry Nephropathy Evaluation on Patients' Management and Long-Term Outcomes: Experience of a Single Center.

Biomedicines
Rusu, Elena-Emanuela EE; Zilisteanu, Diana-Silvia DS; Ciobotaru, Lucia-Mihaela LM; Gherghiceanu, Mihaela M; Procop, Alexandru A; Jurcut, Ruxandra-Oana RO; Dulamea, Adriana Octaviana AO; Sorohan, Bogdan Marian BM
Publication Date: 2022-06-27

Variant appearance in text: GLA: 1228A>G
PubMed Link: 35884826
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01520.pdf
View BVdb publication page



High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K
Publication Date: 2021-09-27

Variant appearance in text: GLA: T410A
PubMed Link: 34679477
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01779.pdf
View BVdb publication page



Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-11-09

Variant appearance in text: GLA: Thr410Ala
PubMed Link: 34535801
Variant Present in the following documents:
  • Main text
  • gfab234.pdf
View BVdb publication page



Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-07-19

Variant appearance in text: GLA: Thr410Ala
PubMed Link: 34282462
Variant Present in the following documents:
  • gfaa324.pdf
View BVdb publication page



Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-12-31

Variant appearance in text: GLA: Thr410Ala
PubMed Link: 34282462
Variant Present in the following documents:
  • gfaa324.pdf
View BVdb publication page



Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.

Frontiers In Medicine
Battaglia, Yuri Y; Fiorini, Fulvio F; Azzini, Cristiano C; Esposito, Pasquale P; De Vito, Alessandro A; Granata, Antonio A; Storari, Alda A; Mignani, Renzo R
Publication Date: 2021

Variant appearance in text: GLA: T410A
PubMed Link: 33634157
Variant Present in the following documents:
  • Main text
  • fmed-08-640876.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: GLA: 1228A>G; Thr410Ala
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
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: T410A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure
Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J
Publication Date: 2019-04

Variant appearance in text: GLA: 1228A>G; Thr410Ala
PubMed Link: 30775854
Variant Present in the following documents:
  • Main text
  • EHF2-6-436-s005.xlsx, sheet 1
  • EHF2-6-436.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GLA: T410A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).

Jimd Reports
Liu, Hao-Chuan HC; Perrin, Amandine A; Hsu, Ting-Rong TR; Yang, Chia-Feng CF; Lin, Hsiang-Yu HY; Yu, Wen-Chung WC; Niu, Dau-Ming DM
Publication Date: 2015

Variant appearance in text: GLA: 1228A>G; T410A
PubMed Link: 25762495
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013

Variant appearance in text: GLA: T410A
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page



Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

Molecular Medicine (Cambridge, Mass.)
Chien, Yin-Hsiu YH; Lee, Ni-Chung NC; Chiang, Shu-Chuan SC; Desnick, Robert J RJ; Hwu, Wuh-Liang WL
Publication Date: 2012-07-18

Variant appearance in text: GLA: T410A
PubMed Link: 22437327
Variant Present in the following documents:
  • Main text
View BVdb publication page



Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

Orphanet Journal Of Rare Diseases
Andreotti, Giuseppina G; Citro, Valentina V; De Crescenzo, Agostina A; Orlando, Pierangelo P; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV
Publication Date: 2011-10-17

Variant appearance in text: GLA: 1228A>G; T410A
PubMed Link: 22004918
Variant Present in the following documents:
  • 1750-1172-6-66.pdf
View BVdb publication page