PAH c.498C>A ;(p.Y166*)

Variant ID: 12-103260385-G-T

NM_000277.1(PAH):c.498C>A;(p.Y166*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine
Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z
Publication Date: 2022-01-25

Variant appearance in text: PAH: 498C>A
PubMed Link: 35079019
Variant Present in the following documents:
  • 41525_2021_280_MOESM1_ESM.pdf
View BVdb publication page



Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.

Bioscience Reports
Qiang, Rong R; Wang, Lin L; He, JinHua J; Xu, Wei Jie WJ; Li, Wei W; Cai, Na N; Wang, Xiao Bin XB; Zhang, RuiXue R; Zhang, Li Ping LP; Ma, Xiao Ping XP; Wei, Chen C; Song, ChengRong C; Yu, WenWen W; Wang, Xiang X; Li, Xu X
Publication Date: 2021-02-26

Variant appearance in text: PAH: 498C>A; Y166X
PubMed Link: 33564846
Variant Present in the following documents:
  • Main text
  • bsr-41-bsr20201660.pdf
View BVdb publication page



Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Genes
Pecimonova, Martina M; Kluckova, Daniela D; Csicsay, Frantisek F; Reblova, Kamila K; Krahulec, Jan J; Procházkova, Dagmar D; Skultety, Ludovit L; Kadasi, Ludevit L; Soltysova, Andrea A
Publication Date: 2019-06-15

Variant appearance in text: PAH: Tyr166*
PubMed Link: 31208052
Variant Present in the following documents:
  • Main text
  • genes-10-00459.pdf
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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: Y166*
PubMed Link: 30050108
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29640.pdf
View BVdb publication page



The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific Reports
Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X
Publication Date: 2017-07-28

Variant appearance in text: PAH: 498C>A; Tyr166*
PubMed Link: 28754886
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_6462.pdf
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: PAH: 498C>A; Tyr166Ter
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Plos One
Gu, Ying Y; Lu, Kangmo K; Yang, Guanghui G; Cen, Zhong Z; Yu, Li L; Lin, Lin L; Hao, Jing J; Yang, Zhigang Z; Peng, Jiabao J; Cui, Shujian S; Huang, Jian J
Publication Date: 2014

Variant appearance in text: PAH: 498C>A; Y166X
PubMed Link: 24705691
Variant Present in the following documents:
  • Main text
  • pone.0094100.s009.xlsx, sheet 1
  • pone.0094100.pdf
  • pone.0094100.s010.xlsx, sheet 1
View BVdb publication page