ADA c.302G>T ;(p.R101L)

Variant ID: 20-43255157-C-A

NM_000022.2(ADA):c.302G>T;(p.R101L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Journal Of Clinical Immunology
Pajno, Roberta R; Pacillo, Lucia L; Recupero, Salvatore S; Cicalese, Maria P MP; Ferrua, Francesca F; Barzaghi, Federica F; Ricci, Silvia S; Marzollo, Antonio A; Pecorelli, Silvia S; Azzari, Chiara C; Finocchi, Andrea A; Cancrini, Caterina C; Di Matteo, Gigliola G; Russo, Gianni G; Alfano, Massimo M; Lesma, Arianna A; Salonia, Andrea A; Adams, Stuart S; Booth, Claire C; Aiuti, Alessandro A
Publication Date: 2020-05

Variant appearance in text: ADA: R101L
PubMed Link: 32307643
Variant Present in the following documents:
  • Main text
  • 10875_2020_Article_777.pdf
View BVdb publication page



Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Journal Of Immunology Research
Essadssi, Soukaina S; Krami, Al Mehdi AM; Elkhattabi, Lamiae L; Elkarhat, Zouhair Z; Amalou, Ghita G; Abdelghaffar, Houria H; Rouba, Hassan H; Barakat, Abdelhamid A
Publication Date: 2019

Variant appearance in text: ADA: R101L
PubMed Link: 31781678
Variant Present in the following documents:
  • 5902391.f1.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs121908714
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: ADA: R101L
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: ADA: R101L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

Blood
Candotti, Fabio F; Shaw, Kit L KL; Muul, Linda L; Carbonaro, Denise D; Sokolic, Robert R; Choi, Christopher C; Schurman, Shepherd H SH; Garabedian, Elizabeth E; Kesserwan, Chimene C; Jagadeesh, G Jayashree GJ; Fu, Pei-Yu PY; Gschweng, Eric E; Cooper, Aaron A; Tisdale, John F JF; Weinberg, Kenneth I KI; Crooks, Gay M GM; Kapoor, Neena N; Shah, Ami A; Abdel-Azim, Hisham H; Yu, Xiao-Jin XJ; Smogorzewska, Monika M; Wayne, Alan S AS; Rosenblatt, Howard M HM; Davis, Carla M CM; Hanson, Celine C; Rishi, Radha G RG; Wang, Xiaoyan X; Gjertson, David D; Yang, Otto O OO; Balamurugan, Arumugam A; Bauer, Gerhard G; Ireland, Joanna A JA; Engel, Barbara C BC; Podsakoff, Gregory M GM; Hershfield, Michael S MS; Blaese, R Michael RM; Parkman, Robertson R; Kohn, Donald B DB
Publication Date: 2012-11-01

Variant appearance in text: ADA: 302G>T
PubMed Link: 22968453
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites.

Bmc Bioinformatics
Faber, Kirsten K; Glatting, Karl-Heinz KH; Mueller, Phillip J PJ; Risch, Angela A; Hotz-Wagenblatt, Agnes A
Publication Date: 2011

Variant appearance in text: ADA: 302G>T; R101L
PubMed Link: 21992029
Variant Present in the following documents:
  • 1471-2105-12-S4-S2-S1.pdf
View BVdb publication page