CFTR c.1705T>G ;(p.Y569D)

Variant ID: 7-117230432-T-G

NM_000492.3(CFTR):c.1705T>G;(p.Y569D)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis.

Pharmaceuticals (Basel, Switzerland)
Bacalhau, Mafalda M; Camargo, Mariana M; Magalhães-Ghiotto, Grace A V GAV; Drumond, Sybelle S; Castelletti, Carlos Henrique M CHM; Lopes-Pacheco, Miquéias M
Publication Date: 2023-03-08

Variant appearance in text: CFTR: Y569D
PubMed Link: 36986509
Variant Present in the following documents:
  • pharmaceuticals-16-00410.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 1705T>G; Tyr569Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Life Science Alliance
Skrahin, Aliaksandr A; Cheema, Huma Arshad HA; Hussain, Maqbool M; Rana, Nuzhat Noureen NN; Rehman, Khalil Ur KU; Kumar, Raman R; Oprea, Gabriela G; Ameziane, Najim N; Rolfs, Arndt A; Skrahina, Volha V
Publication Date: 2023-03

Variant appearance in text: CFTR: 1705T>G; Tyr569Asp
PubMed Link: 36635046
Variant Present in the following documents:
  • LSA-2022-01673_TableS2.xlsx, sheet 1
View BVdb publication page



Author Correction: Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology
Anglès, Frédéric F; Wang, Chao C; Balch, William E WE
Publication Date: 2022-05-18

Variant appearance in text: CFTR: Y569D
PubMed Link: 35585144
Variant Present in the following documents:
  • 42003_2022_3457_MOESM1_ESM.pdf
View BVdb publication page



The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal
Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A
Publication Date: 2021-11

Variant appearance in text: CFTR: 1705T>G; Y569D; rs397508276
PubMed Link: 34860163
Variant Present in the following documents:
  • bmj-38-6-357.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs397508276
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.

Qatar Medical Journal
AbdulWahab, Atqah A; AlNaimi, Amal A; Habra, Basel B; Janahi, Ibrahim I
Publication Date: 2021

Variant appearance in text: CFTR: Tyr569Asp
PubMed Link: 34377682
Variant Present in the following documents:
  • Main text
  • qmj-2021-02-024.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: CFTR: 1705T>G; Tyr569Asp; rs397508276
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Rescue of multiple class II CFTR mutations by elexacaftor+tezacaftor+ivacaftor mediated in part by the dual activities of elexacaftor as both corrector and potentiator.

The European Respiratory Journal
Laselva, Onofrio O; Bartlett, Claire C; Gunawardena, Tarini N A TNA; Ouyang, Hong H; Eckford, Paul D W PDW; Moraes, Theo J TJ; Bear, Christine E CE; Gonska, Tanja T
Publication Date: 2021-06

Variant appearance in text: CFTR: 1705T>G; Y569D
PubMed Link: 33303536
Variant Present in the following documents:
  • Main text
  • ERJ-02774-2020.Supplement.pdf
  • ERJ-02774-2020.pdf
View BVdb publication page



Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine
Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A
Publication Date: 2020

Variant appearance in text: CFTR: 1705T>G; Tyr569Asp
PubMed Link: 33083013
Variant Present in the following documents:
  • 41525_2020_150_MOESM1_ESM.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: CFTR: Y569D
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry
Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P
Publication Date: 2020-12-04

Variant appearance in text: CFTR: Y569D
PubMed Link: 32934006
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination.

Jci Insight
Veit, Guido G; Roldan, Ariel A; Hancock, Mark A MA; Da Fonte, Dillon F DF; Xu, Haijin H; Hussein, Maytham M; Frenkiel, Saul S; Matouk, Elias E; Velkov, Tony T; Lukacs, Gergely L GL
Publication Date: 2020-09-17

Variant appearance in text: CFTR: Y569D
PubMed Link: 32853178
Variant Present in the following documents:
  • Main text
  • jciinsight-5-139983.pdf
View BVdb publication page



Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine
Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N
Publication Date: 2020

Variant appearance in text: CFTR: Y569D
PubMed Link: 32026723
Variant Present in the following documents:
  • 0256-4947.2020.15.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: CFTR: 1705T>G; Y569D
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: CFTR: 1705T>G; Y569D
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: CFTR: Y569D
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.

Bmc Medical Genetics
Indika, Neluwa Liyanage Ruwan NLR; Vidanapathirana, Dinesha Maduri DM; Dilanthi, Hewa Warawitage HW; Kularatnam, Grace Angeline Malarnangai GAM; Chandrasiri, Nambage Dona Priyani Dhammika NDPD; Jasinge, Eresha E
Publication Date: 2019-05-24

Variant appearance in text: CFTR: Y569D
PubMed Link: 31126253
Variant Present in the following documents:
  • 12881_2019_Article_815.pdf
View BVdb publication page



Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D
Publication Date: 2019-11

Variant appearance in text: CFTR: 1705T>G; Y569D
PubMed Link: 31036917
Variant Present in the following documents:
  • 41436_2019_525_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine
Banjar, Hanaa H; Moghrabi, Nabil N; Alotaibi, Tariq T; Alotaibi, Sami S; Gamalmaz, Hisham H
Publication Date: 2017-03

Variant appearance in text: CFTR: Y569D
PubMed Link: 30805499
Variant Present in the following documents:
  • main.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: rs397508276
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The emergence of multidrug-resistant Pseudomonas aeruginosa in cystic fibrosis patients on inhaled antibiotics.

Lung India : Official Organ Of Indian Chest Society
AbdulWahab, Atqah A; Zahraldin, Khalid K; Sid Ahmed, Mazen A MA; Jarir, Sulieman Abu SA; Muneer, Mohammed M; Mohamed, Shehab F SF; Hamid, Jemal M JM; Hassan, Abubaker A I AAI; Ibrahim, Emad Bashir EB
Publication Date: 2017

Variant appearance in text: CFTR: Y569D
PubMed Link: 29098998
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

The Journal Of Biological Chemistry
Vernon, Robert M RM; Chong, P Andrew PA; Lin, Hong H; Yang, Zhengrong Z; Zhou, Qingxian Q; Aleksandrov, Andrei A AA; Dawson, Jennifer E JE; Riordan, John R JR; Brouillette, Christie G CG; Thibodeau, Patrick H PH; Forman-Kay, Julie D JD
Publication Date: 2017-08-25

Variant appearance in text: CFTR: Y569D
PubMed Link: 28655774
Variant Present in the following documents:
  • Main text
View BVdb publication page



From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Molecular Biology Of The Cell
Veit, Gudio G; Avramescu, Radu G RG; Chiang, Annette N AN; Houck, Scott A SA; Cai, Zhiwei Z; Peters, Kathryn W KW; Hong, Jeong S JS; Pollard, Harvey B HB; Guggino, William B WB; Balch, William E WE; Skach, William R WR; Cutting, Garry R GR; Frizzell, Raymond A RA; Sheppard, David N DN; Cyr, Douglas M DM; Sorscher, Eric J EJ; Brodsky, Jeffrey L JL; Lukacs, Gergely L GL
Publication Date: 2016-02-01

Variant appearance in text: CFTR: Y569D
PubMed Link: 26823392
Variant Present in the following documents:
  • Main text
  • 424.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: CFTR: Y569D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04

Variant appearance in text: CFTR: 1705T>G; Tyr569Asp
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.pdf
View BVdb publication page



A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R
Publication Date: 2015-04-21

Variant appearance in text: CFTR: 1705T>G; Y569D
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM
Publication Date: 2016-03

Variant appearance in text: CFTR: 1705T>G; Y569D
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Human Molecular Genetics
Masica, David L DL; Sosnay, Patrick R PR; Raraigh, Karen S KS; Cutting, Garry R GR; Karchin, Rachel R
Publication Date: 2015-04-01

Variant appearance in text: CFTR: Y569D
PubMed Link: 25489051
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

Plos One
Schippa, Serena S; Iebba, Valerio V; Santangelo, Floriana F; Gagliardi, Antonella A; De Biase, Riccardo Valerio RV; Stamato, Antonella A; Bertasi, Serenella S; Lucarelli, Marco M; Conte, Maria Pia MP; Quattrucci, Serena S
Publication Date: 2013

Variant appearance in text: CFTR: Y569D
PubMed Link: 23613805
Variant Present in the following documents:
  • Main text
  • pone.0061176.pdf
View BVdb publication page



Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS
Publication Date: 2008-05

Variant appearance in text: CFTR: Y569D
PubMed Link: 18456578
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of nucleotide-binding domain 1 of the cystic fibrosis transmembrane conductance regulator.

The Embo Journal
Lewis, Hal A HA; Buchanan, Sean G SG; Burley, Stephen K SK; Conners, Kris K; Dickey, Mark M; Dorwart, Michael M; Fowler, Richard R; Gao, Xia X; Guggino, William B WB; Hendrickson, Wayne A WA; Hunt, John F JF; Kearins, Margaret C MC; Lorimer, Don D; Maloney, Peter C PC; Post, Kai W KW; Rajashankar, Kanagalaghatta R KR; Rutter, Marc E ME; Sauder, J Michael JM; Shriver, Stephanie S; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Zhang, Marie M; Zhao, Xun X; Emtage, Spencer S
Publication Date: 2004-01-28

Variant appearance in text: CFTR: Y569D
PubMed Link: 14685259
Variant Present in the following documents:
  • Main text
View BVdb publication page