Title : Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Pub. Date : 2014 Oct

PMID : 24993872






1 Functional Relationships(s)
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Protein Name
Organism
1 The mutation, confirmed by 3 orthogonal methods, alters an evolutionarily conserved region of the HMGB3 protein from a negatively charged polyglutamic acid tract to a positively charged arginine-rich motif that is likely to interfere with normal protein function. Arginine high mobility group box 3 Homo sapiens