FLNA c.3596C>T ;(p.S1199L)

Variant ID: X-153588567-G-A

NM_001110556.1(FLNA):c.3596C>T;(p.S1199L)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.

Molecular Genetics & Genomic Medicine
Luo, Xin X; Yang, Zailin Z; Zeng, Jing J; Chen, Jing J; Chen, Ningxuan N; Jiang, Xiaoyan X; Wei, Qinlv Q; Yi, Ping P; Xu, Jing J
Publication Date: 2023-02-03

Variant appearance in text: FLNA: 3596C>T
PubMed Link: 36734119
Variant Present in the following documents:
  • Main text
  • MGG3-11-e2145.pdf
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: FLNA: 3596C>T; Ser1199Leu
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



A high-efficiency method for site-directed mutagenesis of large plasmids based on large DNA fragment amplification and recombinational ligation.

Scientific Reports
Zhang, Kewei K; Yin, Xiaomei X; Shi, Kaituo K; Zhang, Shihua S; Wang, Juan J; Zhao, Shasha S; Deng, Huan H; Zhang, Cheng C; Wu, Zihui Z; Li, Yuan Y; Zhou, Xiangyu X; Deng, Wensheng W
Publication Date: 2021-05-17

Variant appearance in text: FLNA: S1199L
PubMed Link: 34001951
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_89884.pdf
  • 41598_2021_89884_MOESM1_ESM.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: FLNA: 3596C>T; S1199L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: FLNA: 3596C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

Bmc Medical Genetics
Iqbal, Nida S NS; Jascur, Thomas A TA; Harrison, Steven M SM; Edwards, Angelena B AB; Smith, Luke T LT; Choi, Erin S ES; Arevalo, Michelle K MK; Chen, Catherine C; Zhang, Shaohua S; Kern, Adam J AJ; Scheuerle, Angela E AE; Sanchez, Emma J EJ; Xing, Chao C; Baker, Linda A LA
Publication Date: 2020-02-21

Variant appearance in text: FLNA: S1199L
PubMed Link: 32085749
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_973.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: FLNA: 3596C>T; Ser1199Leu
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: FLNA: 3596C>T; Ser1199Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: FLNA: 3596C>T; S1199L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.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: OPD1: S1199L; rs28935473
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: FLNA: 3596C>T; S1199L; rs28935473
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.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: FLNA: S1199L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Whole exome sequence analysis of Peters anomaly.

Human Genetics
Weh, Eric E; Reis, Linda M LM; Happ, Hannah C HC; Levin, Alex V AV; Wheeler, Patricia G PG; David, Karen L KL; Carney, Erin E; Angle, Brad B; Hauser, Natalie N; Semina, Elena V EV
Publication Date: 2014-12

Variant appearance in text: FLNA: 3596C>T
PubMed Link: 25182519
Variant Present in the following documents:
  • Main text
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: FLNA: 3596C>T; S1199L; rs28935473
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.

Molecular Syndromology
Foley, C C; Roberts, K K; Tchrakian, N N; Morgan, T T; Fryer, A A; Robertson, S P SP; Tubridy, N N
Publication Date: 2010-09

Variant appearance in text: FLNA: S1199L
PubMed Link: 21031081
Variant Present in the following documents:
  • Main text
View BVdb publication page