Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report.

Laura BryantOlga LozynskaAnson MarshTyler E PappLucas van GorderLeona W SerranoXiaowu GaiAlbert M MaguireTomas S AlemanJean Bennett

Published in: The British journal of ophthalmology (2018)

c.590T>C is a novel pathogenic variant in PRPF31 causing adRP with incomplete penetrance. Disease may be due to protein misfolding and associated abnormal protein trafficking to the nucleus.

Keyphrases

protein protein
amino acid
binding protein
small molecule