PAH c.824C>T ;(p.P275L)

Variant ID: 12-103246611-G-A

NM_000277.1(PAH):c.824C>T;(p.P275L)

This variant was identified in 8 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: P275L
PubMed Link: 35987969
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_18656.pdf
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: 824C>T; rs62508715
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports
Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X
Publication Date: 2019-07-02

Variant appearance in text: PAH: P275L
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics
Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X
Publication Date: 2018-01-09

Variant appearance in text: PAH: 824C>T; Pro275Leu
PubMed Link: 29316886
Variant Present in the following documents:
  • 12881_2017_Article_516.pdf
View BVdb publication page



Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

Jimd Reports
Hamilton, V V; Santa María, L L; Fuenzalida, K K; Morales, P P; Desviat, L R LR; Ugarte, M M; Pérez, B B; Cabello, J F JF; Cornejo, V V
Publication Date: 2018

Variant appearance in text: PAH: Pro275Leu
PubMed Link: 29288420
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: Pro275Leu
PubMed Link: 27243974
Variant Present in the following documents:
  • pone.0156359.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: PAH: P275L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

American Journal Of Human Genetics
Gersting, Søren W SW; Kemter, Kristina F KF; Staudigl, Michael M; Messing, Dunja D DD; Danecka, Marta K MK; Lagler, Florian B FB; Sommerhoff, Christian P CP; Roscher, Adelbert A AA; Muntau, Ania C AC
Publication Date: 2008-07

Variant appearance in text: PAH: P275L
PubMed Link: 18538294
Variant Present in the following documents:
  • Main text
View BVdb publication page