ARSA c.1345G>A ;(p.G449R)

Variant ID: 22-51063758-C-T

NM_000487.5(ARSA):c.1345G>A;(p.G449R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ARSA: G449R
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: ARSA: G449R
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM9_ESM.xlsx, sheet 4
View BVdb publication page



Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis.

Frontiers In Neurology
Xu, Lulu L; Zhong, Meixiang M; Wang, Yajuan Y; Wang, Zhihong Z; Song, Jie J; Zhao, Jing J; Yu, Hongyun H; Yang, Zhencui Z; Yan, Wenjing W; Zheng, Xueping X
Publication Date: 2020

Variant appearance in text: ARSA: Gly449Arg
PubMed Link: 33505345
Variant Present in the following documents:
  • fneur-11-576881.pdf
View BVdb publication page



Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations.

Experimental And Therapeutic Medicine
Wang, Yangyang Y; Chen, Xiang X; Liu, Chan C; Wu, Shamin S; Xie, Qingfeng Q; Hu, Quan Q; Chen, Shan S; Liu, Yiwei Y
Publication Date: 2019-09

Variant appearance in text: ARSA: 1345G>A; Gly449Arg
PubMed Link: 31410132
Variant Present in the following documents:
  • Main text
  • etm-18-03-1738.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: ARSA: 1345G>A; G449R
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.

Cell Death & Disease
Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J
Publication Date: 2019-02-04

Variant appearance in text: ARSA: 1345G>A; G449R; rs117341984
PubMed Link: 30718471
Variant Present in the following documents:
  • 41419_2019_1313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page