GLA c.145C>T ;(p.R49C)

Variant ID: X-100662747-G-A

NM_000169.2(GLA):c.145C>T;(p.R49C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: GLA: 145C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Variant R94C in TNNT2-Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction.

Journal Of The American Heart Association
Ezekian, Jordan E JE; Clippinger, Sarah R SR; Garcia, Jaquelin M JM; Yang, Qixin Q; Denfield, Susan S; Jeewa, Aamir A; Dreyer, William J WJ; Zou, Wenxin W; Fan, Yuxin Y; Allen, Hugh D HD; Kim, Jeffrey J JJ; Greenberg, Michael J MJ; Landstrom, Andrew P AP
Publication Date: 2020-03-03

Variant appearance in text: GLA: R49C
PubMed Link: 32098556
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Publication Date: 2020-01-31

Variant appearance in text: GLA: 145C>T; R49C
PubMed Link: 32023956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet Journal Of Rare Diseases
Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB
Publication Date: 2020-01-29

Variant appearance in text: GLA: 145C>T; R49C
PubMed Link: 31996269
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1274.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: R49C
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: R49C
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page



Pharmacological chaperone therapy for Fabry disease.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences
Ishii, Satoshi S
Publication Date: 2012

Variant appearance in text: GLA: R49C
PubMed Link: 22241068
Variant Present in the following documents:
  • pjab-88-018.pdf
View BVdb publication page