HEXB c.1367A>C ;(p.Y456S)

Variant ID: 5-74014746-A-C

NM_000521.3(HEXB):c.1367A>C;(p.Y456S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: HEXB: Y456S; rs121907982
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Molecular Genetics And Metabolism Reports
Ou, Li L; Kim, Sarah S; Whitley, Chester B CB; Jarnes-Utz, Jeanine R JR
Publication Date: 2019-09

Variant appearance in text: HEXB: Tyr456Ser
PubMed Link: 31367523
Variant Present in the following documents:
  • Main text
  • main.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: HEXB: Y456S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.

Molecular Genetics And Metabolism
Fitterer, Braden B; Hall, Patricia P; Antonishyn, Nick N; Desikan, Rajagopal R; Gelb, Michael M; Lehotay, Denis D
Publication Date: 2014-03

Variant appearance in text: HEXB: 1367A>C; Tyr456Ser
PubMed Link: 24461908
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.

Journal Of Biochemistry
Yamada, Kenichiro K; Takado, Yuhei Y; Kato, Yusuke S YS; Yamada, Yasukazu Y; Ishiguro, Hideaki H; Wakamatsu, Nobuaki N
Publication Date: 2013-01

Variant appearance in text: HEXB: Y456S
PubMed Link: 23127958
Variant Present in the following documents:
  • Main text
View BVdb publication page



Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.

Journal Of Molecular Biology
Lemieux, M Joanne MJ; Mark, Brian L BL; Cherney, Maia M MM; Withers, Stephen G SG; Mahuran, Don J DJ; James, Michael N G MN
Publication Date: 2006-06-16

Variant appearance in text: HEXB: Y456S
PubMed Link: 16698036
Variant Present in the following documents:
  • Main text
View BVdb publication page



Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.

Journal Of Molecular Biology
Mark, Brian L BL; Mahuran, Don J DJ; Cherney, Maia M MM; Zhao, Dalian D; Knapp, Spencer S; James, Michael N G MN
Publication Date: 2003-04-11

Variant appearance in text: HEXB: Tyr456Ser
PubMed Link: 12662933
Variant Present in the following documents:
  • Main text
View BVdb publication page