TMSNP : a web server to predict pathogenesis of missense mutations in the transmembrane region of membrane proteins
García Recio, Ädrian (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)
Gómez-Tamayo, José Carlos (Institut Hospital del Mar d'Investigacions Mèdiques)
Reina, Iker (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)
Campillo Grau, María Mercedes (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)
Cordomí Montoya, Arnau (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)
Olivella, Mireia (Universitat de Vic)

Data:	2021
Resum:	The massive amount of data generated from genome sequencing brings tons of newly identified mutations, whose pathogenic/non-pathogenic effects need to be evaluated. This has given rise to several mutation predictor tools that, in general, do not consider the specificities of the various protein groups. We aimed to develop a predictor tool dedicated to membrane proteins, under the premise that their specific structural features and environment would give different responses to mutations compared to globular proteins. For this purpose, we created TMSNP, a database that currently contains information from 2624 pathogenic and 196 705 non-pathogenic reported mutations located in the transmembrane region of membrane proteins. By computing various conservation parameters on these mutations in combination with annotations, we trained a machine-learning model able to classify mutations as pathogenic or not. TMSNP (freely available at ) improves considerably the prediction power of commonly used mutation predictors trained with globular proteins.
Ajuts:	Ministerio de Economía y Competitividad SAF2015-74627-JIN Agencia Estatal de Investigación SAF2016-77830-R Instituto de Salud Carlos III PI19/00348
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Publicat a:	NAR Genomics and Bioinformatics, Vol. 3 n. 1 (february 2021) , ISSN 2631-9268
Obra relacionada:	Adrián Garcia-Recio, José Carlos Gómez-Tamayo, Iker Reina, Mercedes Campillo, Arnau Cordomí, Mireia Olivella, Correction to 'TMSNP: a web server to predict pathogenesis of missense mutations in the transmembrane region of membrane proteins', NAR Genomics and Bioinformatics, Volume 3, Issue 3, September 2021, lqab076 https://doi.org/10.1093/nargab/lqab076

Correcció: https://ddd.uab.cat/record/302903
DOI: 10.1093/nargab/lqab008
PMID: 33655207

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