PAH c.1289T>C ;(p.L430P)

Variant ID: 12-103234204-A-G

NM_000277.1(PAH):c.1289T>C;(p.L430P)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.

Orphanet Journal Of Rare Diseases
Zhang, Chuan C; Yan, Yousheng Y; Zhou, Bingbo B; Wang, Yupei Y; Tian, Xinyuan X; Hao, Shengju S; Ma, Panpan P; Zheng, Lei L; Zhang, Qinghua Q; Hui, Ling L; Wang, Yan Y; Cao, Zongfu Z; Ma, Xu X
Publication Date: 2023-05-26

Variant appearance in text: PAH: 1289T>C
PubMed Link: 37237386
Variant Present in the following documents:
  • Main text
  • 13023_2023_Article_2742.pdf
View BVdb publication page



The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

Human Genomics
Zhang, Chuan C; Zhang, Pei P; Yan, Yousheng Y; Zhou, Bingbo B; Wang, Yupei Y; Tian, Xinyuan X; Hao, Shengju S; Ma, Panpan P; Zheng, Lei L; Zhang, Qinghua Q; Hui, Ling L; Wang, Yan Y; Cao, Zongfu Z; Ma, Xu X
Publication Date: 2023-04-25

Variant appearance in text: PAH: 1289T>C
PubMed Link: 37098607
Variant Present in the following documents:
  • 40246_2023_Article_475.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: 1289T>C
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences
Wang, Jie J; Zhu, Bo B; Zhang, Lichun L; Zhao, Yitong Y; Wang, Xiaohua X; Jia, Yueqi Y
Publication Date: 2021-08-25

Variant appearance in text: PAH: 1289T>C; L430P
PubMed Link: 34704413
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Annals Of Translational Medicine
Su, Yajie Y; Wang, Huijun H; Rejiafu, Nuerya N; Wu, Bingbing B; Jiang, Haili H; Chen, Hongbo H; A, Xian X; Qian, Yanyan Y; Li, Mingzhu M; Lu, Yulan Y; Ren, Yan Y; Li, Long L; Zhou, Wenhao W
Publication Date: 2019-06

Variant appearance in text: PAH: 1289T>C; L430P
PubMed Link: 31355225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.

Scientific Reports
Li, Nana N; He, Chunhua C; Li, Jing J; Tao, Jing J; Liu, Zhen Z; Zhang, Chunyan C; Yuan, Yuan Y; Jiang, Hui H; Zhu, Jun J; Deng, Ying Y; Guo, Yixiong Y; Li, Qintong Q; Yu, Ping P; Wang, Yanping Y
Publication Date: 2018-07-26

Variant appearance in text: PAH: L430P
PubMed Link: 30050108
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29640.pdf
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: 1289T>C; Leu430Pro
PubMed Link: 29316886
Variant Present in the following documents:
  • 12881_2017_Article_516.pdf
View BVdb publication page



Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Scientific Reports
Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Tao, Jing J; Chen, Song S; Li, Xiaohong X; Deng, Ying Y; Jin, Xi X; Song, Jiaping J; Zhang, Liangtao L; Liang, Yu Y; Wang, Wei W; Zhu, Jun J
Publication Date: 2015-10-27

Variant appearance in text: PAH: L430P
PubMed Link: 26503515
Variant Present in the following documents:
  • Main text
  • srep15769.pdf
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: L430P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: L430P
PubMed Link: 17924342
Variant Present in the following documents:
  • Main text
View BVdb publication page