ABCA4 c.4319T>C ;(p.F1440S)

Variant ID: 1-94496017-A-G

NM_000350.2(ABCA4):c.4319T>C;(p.F1440S)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Translational Vision Science & Technology
Glinton, Sophie L SL; Calcagni, Antonio A; Lilaonitkul, Watjana W; Pontikos, Nikolas N; Vermeirsch, Sandra S; Zhang, Gongyu G; Arno, Gavin G; Wagner, Siegfried K SK; Michaelides, Michel M; Keane, Pearse A PA; Webster, Andrew R AR; Mahroo, Omar A OA; Robson, Anthony G AG
Publication Date: 2022-09-01

Variant appearance in text: ABCA4: 4319T>C; Phe1440Ser
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.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: ABCA4: 4319T>C; Phe1440Ser; rs61750141
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.

Molecular Vision
Midgley, Nicole N; Roberts, Lisa L; Rebello, George G; Ramesar, Raj R
Publication Date: 2020

Variant appearance in text: ABCA4: 4319T>C
PubMed Link: 32913387
Variant Present in the following documents:
  • Main text
  • mv-v26-613.pdf
View BVdb publication page



A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01

Variant appearance in text: ABCA4: F1440S
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

Molecular Therapy. Nucleic Acids
Khan, Mubeen M; Arno, Gavin G; Fakin, Ana A; Parfitt, David A DA; Dhooge, Patty P A PPA; Albert, Silvia S; Bax, Nathalie M NM; Duijkers, Lonneke L; Niblock, Michael M; Hau, Kwan L KL; Bloch, Edward E; Schiff, Elena R ER; Piccolo, Davide D; Hogden, Michael C MC; Hoyng, Carel B CB; Webster, Andrew R AR; Cremers, Frans P M FPM; Cheetham, Michael E ME; Garanto, Alejandro A; Collin, Rob W J RWJ
Publication Date: 2020-09-04

Variant appearance in text: STGD1: 4319T>C
PubMed Link: 32653833
Variant Present in the following documents:
  • Main text
  • mmc6.pdf
  • main.pdf
View BVdb publication page



Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration.

Ophthalmology
Mehat, Manjit S MS; Sundaram, Venki V; Ripamonti, Caterina C; Robson, Anthony G AG; Smith, Alexander J AJ; Borooah, Shyamanga S; Robinson, Martha M; Rosenthal, Adam N AN; Innes, William W; Weleber, Richard G RG; Lee, Richard W J RWJ; Crossland, Michael M; Rubin, Gary S GS; Dhillon, Baljean B; Steel, David H W DHW; Anglade, Eddy E; Lanza, Robert P RP; Ali, Robin R RR; Michaelides, Michel M; Bainbridge, James W B JWB
Publication Date: 2018-11

Variant appearance in text: ABCA4: 4319T>C
PubMed Link: 29884405
Variant Present in the following documents:
  • Main text
  • main.pdf
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: STGD1: F1440S
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: ABCA4: F1440S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



ABCA4 gene screening by next-generation sequencing in a British cohort.

Investigative Ophthalmology & Visual Science
Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Webster, Andrew R AR; Moore, Anthony T AT; Allikmets, Rando R; Michaelides, Michel M
Publication Date: 2013-10-11

Variant appearance in text: ABCA4: 4319T>C; F1440S; rs61750141
PubMed Link: 23982839
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Molecular Vision
Roberts, Lisa J LJ; Nossek, Christel A CA; Greenberg, L Jacquie LJ; Ramesar, Rajkumar S RS
Publication Date: 2012

Variant appearance in text: ABCR: Phe1440Ser
PubMed Link: 22328824
Variant Present in the following documents:
  • Main text
  • mv-v18-280.pdf
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: ABCA4: F1440S
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 2
View BVdb publication page