Neuro-Ophthalmology & Neuro-Otology
Otic capsule dysplasia
May. 14, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Peptides are colored a-red, b-orange, c-yellow, d-green, and e-blue. The active site is denoted by a Zn2+ ion. Two mutant sites are displayed, demonstrating the effect of mutations c.215A>T: p.H72L affecting Zn2+ coordination in the actives site (group 1 mutation) and the prevalent mutation c.2248C>T: p.R750W, which is likely affecting peptide e-d interaction (group 2 mutation). (Created by Dr. P. Heikinheimo, University of Helsinki, Finland. It has been prepared with the program PyMol. Source: Malm D, Nilssen O. Alpha-mannosidosis. Orphanet J Rare Dis 2008;3:21. Creative Commons Attribution License. http://creativecommons.org/licenses/by/2.0. Enlarged and edited by Douglas J Lanska MD MS MSPH to improve sharpness and contrast.)