%0 Journal Article
%A Iannaccone, A.
%A Man, D.
%A Waseem, N.
%A Jennings, B. J.
%A Ganapathiraju, M.
%A Gallaher, K.
%A Reese, E.
%A Bhattacharya, S. S.
%A Klein-Seetharaman, J.
%T Retinitis Pigmentosa Asssociated with Rhodopsin Mutations: Correlation between Phenotypic Variability and Molecular Effects.
%J Vision research
%V 46
%@ 0042-6989
%C Amsterdam [u.a.]
%I Elsevier Science
%M PreJuSER-54920
%P 4556 - 4567
%D 2006
%Z Record converted from VDB: 12.11.2012
%X Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The P180A and G188R mutations (second intradiscal loop) exhibit a mild phenotype with regional variability (class B1) and diffuse disease of moderate severity (class B2), respectively. Computational and in vitro studies of these mutants provide molecular insights into this phenotypic variability.
%K Adolescent
%K Adult
%K Age Factors
%K Amino Acid Substitution
%K Child
%K Child, Preschool
%K Computational Biology
%K DNA Mutational Analysis
%K Disease Progression
%K Electroretinography
%K Female
%K Humans
%K Male
%K Mutation
%K Pedigree
%K Peptide Fragments: genetics
%K Phenotype
%K Retinitis Pigmentosa: genetics
%K Retinitis Pigmentosa: metabolism
%K Rhodopsin: genetics
%K Rhodopsin: metabolism
%K Rod Cell Outer Segment: metabolism
%K Vision, Ocular
%K Peptide Fragments (NLM Chemicals)
%K Rhodopsin (NLM Chemicals)
%K J (WoSType)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:17014888
%U <Go to ISI:>//WOS:000242674400015
%R 10.1016/j.visres.2006.08.018
%U https://juser.fz-juelich.de/record/54920