Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu
We characterized a novel GJB2 missense variant, c.133G>A, p.Gly45Arg, and compared it with the only other variant at the same amino acid position of the connexin 26 protein (Cx26) reported to date: c.134G>A, p.Gly45Glu. Whereas both variants are associated with hearing loss and are dominantly...
Main Authors: | Juan Rodriguez-Paris, Jörg Waldhaus, Jeenal A. Gordhandas, Lynn Pique, Iris Schrijver |
---|---|
Format: | Article |
Language: | English |
Published: |
PeerJ Inc.
2016-10-01
|
Series: | PeerJ |
Subjects: | |
Online Access: | https://peerj.com/articles/2494.pdf |
Similar Items
-
P.Gly61Glu and P.Arg368His mutations in CYP1B1 that cause congenital glaucoma may be relatively frequent in certain regions of Gilan province, Iran
by: Mansoure Qashqai, et al.
Published: (2018-01-01) -
Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism
by: Dipanwita Sadhukhan, et al.
Published: (2020-01-01) -
3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic <i>FBN1</i> p.Gly1127Cys Variant
by: Jung Sun Cho, et al.
Published: (2021-06-01) -
A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review
by: P. Loza, et al.
Published: (2021-01-01) -
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg
by: Clothilde Godillot, et al.
Published: (2019-06-01)