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DMD c.563G>C ;(p.C188S)
Variant ID: X-32827696-C-G
NM_004006.2(
DMD
):c.563G>C;(p.C188S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Computational tools for the evaluation of laboratory-engineered biocatalysts.
Chemical Communications (Cambridge, England)
Romero-Rivera, Adrian A; Garcia-Borràs, Marc M; Osuna, Sílvia S
Publication Date: 2016-12-22
Variant appearance in text: DMD: Cys188Ser
PubMed Link:
27812570
Variant Present in the following documents:
Main text
View BVdb publication page
Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin.
Proteins
Singh, Surinder M SM; Molas, Justine F JF; Kongari, Narsimulu N; Bandi, Swati S; Armstrong, Geoffrey S GS; Winder, Steve J SJ; Mallela, Krishna M G KM
Publication Date: 2012-05
Variant appearance in text: DMD: C188S
PubMed Link:
22275054
Variant Present in the following documents:
Main text
View BVdb publication page
Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Singh, Surinder M SM; Kongari, Narsimulu N; Cabello-Villegas, Javier J; Mallela, Krishna M G KM
Publication Date: 2010-08-24
Variant appearance in text: DMD: C188S
PubMed Link:
20696926
Variant Present in the following documents:
Main text
View BVdb publication page