PAH c.136G>A ;(p.G46S)

Variant ID: 12-103306601-C-T

NM_000277.1(PAH):c.136G>A;(p.G46S)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.

Scientific Reports
Sarodaya, Neha N; Tyagi, Apoorvi A; Kim, Hyun-Jin HJ; Kang, Ju-Seop JS; Singh, Vijai V; Hong, Seok-Ho SH; Kim, Woo Jin WJ; Kim, Kye-Seong KS; Ramakrishna, Suresh S
Publication Date: 2022-08-20

Variant appearance in text: PAH: G46S
PubMed Link: 35987969
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_18656.pdf
View BVdb publication page



Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Jimd Reports
Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C
Publication Date: 2022-03

Variant appearance in text: PAH: Gly46Ser
PubMed Link: 35281663
Variant Present in the following documents:
  • Main text
  • JMD2-63-146.pdf
View BVdb publication page



Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: PAH: 136G>A
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



In Silico and In Vitro Tailoring of a Chitosan Nanoformulation of a Human Metabolic Enzyme.

Pharmaceutics
Lino, Paulo R PR; Leandro, João J; Amaro, Mariana M; Gonçalves, Lídia M D LMD; Leandro, Paula P; Almeida, António J AJ
Publication Date: 2021-03-04

Variant appearance in text: PAH: G46S
PubMed Link: 33806405
Variant Present in the following documents:
  • pharmaceutics-13-00329.pdf
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: PAH: G46S
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Molecular Genetics & Genomic Medicine
Ferreira, Filipa F; Azevedo, Luísa L; Neiva, Raquel R; Sousa, Carmen C; Fonseca, Helena H; Marcão, Ana A; Rocha, Hugo H; Carmona, Célia C; Ramos, Sónia S; Bandeira, Anabela A; Martins, Esmeralda E; Campos, Teresa T; Rodrigues, Esmeralda E; Garcia, Paula P; Diogo, Luísa L; Ferreira, Ana Cristina AC; Sequeira, Silvia S; Silva, Francisco F; Rodrigues, Luísa L; Gaspar, Ana A; Janeiro, Patrícia P; Amorim, António A; Vilarinho, Laura L
Publication Date: 2021-03

Variant appearance in text: PAH: 136G>A; Gly46Ser
PubMed Link: 33465300
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1559.pdf
View BVdb publication page



The Genetic Landscape and Epidemiology of Phenylketonuria.

American Journal Of Human Genetics
Hillert, Alicia A; Anikster, Yair Y; Belanger-Quintana, Amaya A; Burlina, Alberto A; Burton, Barbara K BK; Carducci, Carla C; Chiesa, Ana E AE; Christodoulou, John J; Đorđević, Maja M; Desviat, Lourdes R LR; Eliyahu, Aviva A; Evers, Roeland A F RAF; Fajkusova, Lena L; Feillet, François F; Bonfim-Freitas, Pedro E PE; Giżewska, Maria M; Gundorova, Polina P; Karall, Daniela D; Kneller, Katya K; Kutsev, Sergey I SI; Leuzzi, Vincenzo V; Levy, Harvey L HL; Lichter-Konecki, Uta U; Muntau, Ania C AC; Namour, Fares F; Oltarzewski, Mariusz M; Paras, Andrea A; Perez, Belen B; Polak, Emil E; Polyakov, Alexander V AV; Porta, Francesco F; Rohrbach, Marianne M; Scholl-Bürgi, Sabine S; Spécola, Norma N; Stojiljković, Maja M; Shen, Nan N; Santana-da Silva, Luiz C LC; Skouma, Anastasia A; van Spronsen, Francjan F; Stoppioni, Vera V; Thöny, Beat B; Trefz, Friedrich K FK; Vockley, Jerry J; Yu, Youngguo Y; Zschocke, Johannes J; Hoffmann, Georg F GF; Garbade, Sven F SF; Blau, Nenad N
Publication Date: 2020-08-06

Variant appearance in text: PAH: 136G>A; Gly46Ser
PubMed Link: 32668217
Variant Present in the following documents:
  • Main text
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: PAH: 136G>A; Gly46Ser; rs74603784
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.

Molecular Genetics & Genomic Medicine
Vieira Neto, Eduardo E; Laranjeira, Francisco F; Quelhas, Dulce D; Ribeiro, Isaura I; Seabra, Alexandre A; Mineiro, Nicole N; Carvalho, Lilian M LM; Lacerda, Lúcia L; Ribeiro, Márcia G MG
Publication Date: 2019-05

Variant appearance in text: PAH: 136G>A; G46S
PubMed Link: 30829006
Variant Present in the following documents:
  • Main text
  • MGG3-7-e610.pdf
View BVdb publication page



Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Vieira Neto, Eduardo E; Maia Filho, Heber de Souza HS; Monteiro, Claudia Braga CB; Carvalho, Lilian de Mattos LM; da Cruz, Thuane Silva TS; de Barros, Belisia Vasconcelos BV; Ribeiro, Marcia Gonçalves MG
Publication Date: 2018-10-30

Variant appearance in text: PAH: 136G>A; G46S
PubMed Link: 30375370
Variant Present in the following documents:
  • medscimonit-24-7759.pdf
View BVdb publication page



Simulations of the regulatory ACT domain of human phenylalanine hydroxylase (PAH) unveil its mechanism of phenylalanine binding.

The Journal Of Biological Chemistry
Ge, Yunhui Y; Borne, Elias E; Stewart, Shannon S; Hansen, Michael R MR; Arturo, Emilia C EC; Jaffe, Eileen K EK; Voelz, Vincent A VA
Publication Date: 2018-12-21

Variant appearance in text: PAH: G46S
PubMed Link: 30287685
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Molecular Genetics & Genomic Medicine
Vieira Neto, Eduardo E; Laranjeira, Francisco F; Quelhas, Dulce D; Ribeiro, Isaura I; Seabra, Alexandre A; Mineiro, Nicole N; D M Carvalho, Lilian L; Lacerda, Lúcia L; G Ribeiro, Márcia M
Publication Date: 2018-05-10

Variant appearance in text: PAH: 136G>A
PubMed Link: 29749107
Variant Present in the following documents:
  • Main text
  • MGG3-6-575.pdf
View BVdb publication page



PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain.

Febs Open Bio
Leandro, João J; Saraste, Jaakko J; Leandro, Paula P; Flatmark, Torgeir T
Publication Date: 2017-02

Variant appearance in text: PAH: G46S
PubMed Link: 28174686
Variant Present in the following documents:
  • Main text
  • FEB4-7-195.pdf
View BVdb publication page



The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.

Jimd Reports
Ohlsson, Annika A; Bruhn, Helene H; Nordenström, Anna A; Zetterström, Rolf H RH; Wedell, Anna A; von Döbeln, Ulrika U
Publication Date: 2017

Variant appearance in text: PAH: 136G>A; Gly46Ser
PubMed Link: 27469133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Plos One
Yubero, Dèlia D; Brandi, Núria N; Ormazabal, Aida A; Garcia-Cazorla, Àngels À; Pérez-Dueñas, Belén B; Campistol, Jaime J; Ribes, Antonia A; Palau, Francesc F; Artuch, Rafael R; Armstrong, Judith J; ,
Publication Date: 2016

Variant appearance in text: PAH: 136G>A; Gly46Ser
PubMed Link: 27243974
Variant Present in the following documents:
  • pone.0156359.s002.xlsx, sheet 1
View BVdb publication page



Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.

Scientific Reports
Patel, Dipali D; Kopec, Jolanta J; Fitzpatrick, Fiona F; McCorvie, Thomas J TJ; Yue, Wyatt W WW
Publication Date: 2016-04-06

Variant appearance in text: PAH: G46S
PubMed Link: 27049649
Variant Present in the following documents:
  • Main text
  • srep23748.pdf
View BVdb publication page



Phenylketonuria: translating research into novel therapies.

Translational Pediatrics
Ho, Gladys G; Christodoulou, John J
Publication Date: 2014-04

Variant appearance in text: PAH: G46S
PubMed Link: 26835324
Variant Present in the following documents:
  • Main text
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: PAH: G46S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Jimd Reports
Ho, Gladys G; Alexander, Ian I; Bhattacharya, Kaustuv K; Dennison, Barbara B; Ellaway, Carolyn C; Thompson, Sue S; Wilcken, Bridget B; Christodoulou, John J
Publication Date: 2014

Variant appearance in text: PAH: G46S
PubMed Link: 24368688
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural features of the regulatory ACT domain of phenylalanine hydroxylase.

Plos One
Carluccio, Carla C; Fraternali, Franca F; Salvatore, Francesco F; Fornili, Arianna A; Zagari, Adriana A
Publication Date: 2013

Variant appearance in text: PAH: G46S
PubMed Link: 24244510
Variant Present in the following documents:
  • Main text
  • pone.0079482.pdf
View BVdb publication page



A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics.

Archives Of Biochemistry And Biophysics
Jaffe, Eileen K EK; Stith, Linda L; Lawrence, Sarah H SH; Andrake, Mark M; Dunbrack, Roland L RL
Publication Date: 2013-02-15

Variant appearance in text: PAH: G46S
PubMed Link: 23296088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

Proteins
Shi, Zhen Z; Sellers, Jenn J; Moult, John J
Publication Date: 2012-01

Variant appearance in text: PAH: G46S
PubMed Link: 21953985
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.

Plos One
Poulsen, Lena L; Søe, Martin Jensen MJ; Møller, Lisbeth Birk LB; Dufva, Martin M
Publication Date: 2011-03-22

Variant appearance in text: PAH: 136G>A; G46S
PubMed Link: 21445337
Variant Present in the following documents:
  • Main text
  • pone.0014777.pdf
View BVdb publication page



Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics
Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A
Publication Date: 2007-11

Variant appearance in text: PAH: G46S
PubMed Link: 17924342
Variant Present in the following documents:
  • Main text
View BVdb publication page



Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.

American Journal Of Human Genetics
Gjetting, T T; Petersen, M M; Guldberg, P P; Güttler, F F
Publication Date: 2001-06

Variant appearance in text: PAH: G46S
PubMed Link: 11326337
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutagenesis of the regulatory domain of phenylalanine hydroxylase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, G A GA; Gu, P P; Kaufman, S S
Publication Date: 2001-02-13

Variant appearance in text: PAH: G46S
PubMed Link: 11171986
Variant Present in the following documents:
  • Main text
View BVdb publication page