Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Mar 4;16:116. doi: 10.1186/s13023-021-01746-z

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

PMC Copyright notice

Fig. 1 — Genetic and in silico characterization of the identified variants in HINT1. a Pedigree structure, segregation and haplotype analysis. The shared haplotype surrounding the novel c.284G > A (p.Arg95Gln) variant is depicted in red, the previously established haplotype surrounding the known c.110G > C (p.Arg37Pro) founder variant is in blue. b Phasing analysis of the two HINT1 variants found in P2 using cDNA obtained from lymphoblasts. Electropherograms of two individual cDNA clones show that the variants are situated on different transcripts (in trans). c Evolutionary conservation of the amino acid residue affected by the novel p.Arg95Gln substitution in HINT1. The mutated residue is indicated in red. d Left: Localization of the p.Arg95 residue on the crystal structure of HINT1 (PDB:5KLZ) and its interaction with other amino acids through hydrogen bonds (orange). Right: The p.Arg95Gln substitution (in salmon) causes a loss of hydrogen bonds