C3 c.4855A>C ;(p.S1619R)

Variant ID: 19-6678030-T-G

NM_000064.2(C3):c.4855A>C;(p.S1619R)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Genetic Risk in Families with Age-Related Macular Degeneration.

Ophthalmology Science
de Breuk, Anita A; Lechanteur, Yara T E YTE; Heesterbeek, Thomas J TJ; Fauser, Sascha S; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2021-12

Variant appearance in text: C3b: Ser1619Arg
PubMed Link: 36246952
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Molecular Genetic Mechanisms in Age-Related Macular Degeneration.

Genes
Shughoury, Aumer A; Sevgi, Duriye Damla DD; Ciulla, Thomas A TA
Publication Date: 2022-07-12

Variant appearance in text: C3b: Ser1619Arg; rs2230210
PubMed Link: 35886016
Variant Present in the following documents:
  • Main text
  • genes-13-01233.pdf
View BVdb publication page



Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

Jama Ophthalmology
de Breuk, Anita A; Heesterbeek, Thomas J TJ; Bakker, Bjorn B; Verzijden, Timo T; Lechanteur, Yara T E YTE; Klaver, Caroline C W CCW; den Hollander, Anneke I AI; Hoyng, Carel B CB
Publication Date: 2021-11-01

Variant appearance in text: C3b: Ser1619Arg
PubMed Link: 34647987
Variant Present in the following documents:
  • jamaophthalmol-e214102-s001.pdf
View BVdb publication page



Complement in Secondary Thrombotic Microangiopathy.

Kidney International Reports
Palma, Lilian Monteiro Pereira LMP; Sridharan, Meera M; Sethi, Sanjeev S
Publication Date: 2021-01

Variant appearance in text: C3b: Ser1619Arg
PubMed Link: 33102952
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.

Biomed Research International
Maugeri, Andrea A; Barchitta, Martina M; Mazzone, Maria Grazia MG; Giuliano, Francesco F; Agodi, Antonella A
Publication Date: 2018

Variant appearance in text: C3b: S1619R
PubMed Link: 30225264
Variant Present in the following documents:
  • Main text
  • BMRI2018-7532507.pdf
View BVdb publication page



Analysis of C3 Gene Variants in Patients With Idiopathic Recurrent Spontaneous Pregnancy Loss.

Frontiers In Immunology
Mohlin, Frida C FC; Gros, Piet P; Mercier, Eric E; Gris, Jean-Christophe Raymond JR; Blom, Anna M AM
Publication Date: 2018

Variant appearance in text: C3a: 4855A>C; rs2230210
PubMed Link: 30131807
Variant Present in the following documents:
  • Main text
  • fimmu-09-01813.pdf
View BVdb publication page



Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential.

Clinical Kidney Journal
Dowen, Frances F; Wood, Katrina K; Brown, Alison L AL; Palfrey, Jennifer J; Kavanagh, David D; Brocklebank, Vicky V
Publication Date: 2017-08

Variant appearance in text: C3b: 4855A>C
PubMed Link: 28852487
Variant Present in the following documents:
  • Main text
  • sfx030.pdf
View BVdb publication page



The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Molecular Immunology
Geerlings, Maartje J MJ; de Jong, Eiko K EK; den Hollander, Anneke I AI
Publication Date: 2017-04

Variant appearance in text: C3b: Ser1619Arg
PubMed Link: 27939104
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: rs2230210
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

The Embo Journal
Forneris, Federico F; Wu, Jin J; Xue, Xiaoguang X; Ricklin, Daniel D; Lin, Zhuoer Z; Sfyroera, Georgia G; Tzekou, Apostolia A; Volokhina, Elena E; Granneman, Joke Cm JC; Hauhart, Richard R; Bertram, Paula P; Liszewski, M Kathryn MK; Atkinson, John P JP; Lambris, John D JD; Gros, Piet P
Publication Date: 2016-05-17

Variant appearance in text: C3b: Ser1619Arg
PubMed Link: 27013439
Variant Present in the following documents:
  • EMBJ-35-1133-s001.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: ARMD9: S1619R; rs2230210
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs2230210
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genetic variants in the complement system predisposing to age-related macular degeneration: a review.

Molecular Immunology
Schramm, Elizabeth C EC; Clark, Simon J SJ; Triebwasser, Michael P MP; Raychaudhuri, Soumya S; Seddon, Johanna J; Atkinson, John P JP
Publication Date: 2014-10

Variant appearance in text: C3b: S1619R
PubMed Link: 25034031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.

Plos One
Duvvari, Maheswara R MR; Paun, Codrut C CC; Buitendijk, Gabriëlle H S GH; Saksens, Nicole T M NT; Volokhina, Elena B EB; Ristau, Tina T; Schoenmaker-Koller, Frederieke E FE; van de Ven, Johannes P H JP; Groenewoud, Joannes M M JM; van den Heuvel, Lambertus P W J LP; Hofman, Albert A; Fauser, Sascha S; Uitterlinden, André G AG; Klaver, Caroline C W CC; Hoyng, Carel B CB; de Jong, Eiko K EK; den Hollander, Anneke I AI
Publication Date: 2014

Variant appearance in text: C3a: 4855A>C; rs2230210
PubMed Link: 24736606
Variant Present in the following documents:
  • Main text
  • pone.0094165.pdf
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs2230210
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Journal Of The American Society Of Nephrology : Jasn
Bu, Fengxiao F; Maga, Tara T; Meyer, Nicole C NC; Wang, Kai K; Thomas, Christie P CP; Nester, Carla M CM; Smith, Richard J H RJ
Publication Date: 2014-01

Variant appearance in text: C3b: 4855A>C; rs2230210
PubMed Link: 24029428
Variant Present in the following documents:
  • Main text
View BVdb publication page