Variant position: 1142 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2647 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human CSVSYVPTEPGDYNINILFA DTHIPGSPFKAHVVPCFDASK
Mouse CSVSYVPTEPGDYNINILFA DTHIPGSPFKAHVAPCFDASK
Drosophila -------------------- ---------------------
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S.; Fergelot P.; Naudion S.; Cordier M.P.; Sole G.; Guerineau E.; Hubert C.; Rooryck C.; Vuillaume M.L.; Houcinat N.; Deforges J.; Bouron J.; Deves S.; Le Merrer M.; David A.; Genevieve D.; Giuliano F.; Journel H.; Megarbane A.; Faivre L.; Chassaing N.; Francannet C.; Sarrazin E.; Stattin E.L.; Vigneron J.; Leclair D.; Abadie C.; Sarda P.; Baumann C.; Delrue M.A.; Arveiler B.; Lacombe D.; Goizet C.; Coupry I.;
J. Hum. Genet. 61:693-699(2016)
Cited for: VARIANTS OPD2 SER-187 AND GLY-196; VARIANTS OPD1 LEU-207; THR-267; ASP-804 AND HIS-2391; VARIANTS FMD1 VAL-1142; LEU-1186 AND ARG-1840; VARIANTS MNS LEU-1163 AND THR-1188;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.