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Pipeline publication

[…] Tool, BLAST, were performed against the Protein Data Bank (PDB, using the GNAT1 protein sequence (human GNAT1 reference sequence NP_653082.1) as a query. The sequences (Bovine NP_851365.1 GNAT1, human, wild-type and the two RCD mutant forms from NP_653082.1, and the crystallized bovine GNAT1 (1TND, PDB ID)) were then aligned using Clustal Omega ( The three GNAT1 3D-structures, the full-length and the two truncated mutants of NP_653082.1, were predicted (Protein Homology/analogY Recognition Engine V2.0, Phyre2,, []; Iterative Threading ASSEmbly Refinement, I-TASSER,, []; TM-Align,, []). The PyMOL Molecular Graphics System, Version 1.7.x Schrödinger, LLC, was used to model GNAT1 interactions with GDP (PDB code 1GOT), GTP (PDB code 1TND), and with RHO (PDB code 4A4M)., The proband CIC01293 () was a 32 year-old male subject at the time of examination. He had been diagnosed with RCD in his mid-teens secondary to night vision disturbances and progressive visual field constriction. He had no relevant personal medical history. Similarly, there was no familial history of night blindness or retinal disease besides high myopia on father side. He was originating from the south of France with a mother of Italian descent. Best corrected visual acuity was 20/80 with -9(-1)160° in the right e […]

Pipeline specifications

Software tools I-TASSER, TM-align, PyMOL