Variant position: 87 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 701 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 QNELKHLFNEKQTQQEKLQL LLEELRGELVEKTKDLEEMKL
Mouse QNELKRVLIEKQASQEKFQL LLEDLRGELVEKARDIEKMKL
Rat QNELKRVLNEKQTNQEKFQL LLEELRGELVEKVKDMEAMKL
Zebrafish QNELKRLLSDRQVTQEKQQL LLAELRGELLDKTRDLEELKL
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.
Type Positions Description
1 – 701 Centrosomal protein of 83 kDa
40 – 634
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Failler M.; Gee H.Y.; Krug P.; Joo K.; Halbritter J.; Belkacem L.; Filhol E.; Porath J.D.; Braun D.A.; Schueler M.; Frigo A.; Alibeu O.; Masson C.; Brochard K.; Hurault de Ligny B.; Novo R.; Pietrement C.; Kayserili H.; Salomon R.; Gubler M.C.; Otto E.A.; Antignac C.; Kim J.; Benmerah A.; Hildebrandt F.; Saunier S.;
Am. J. Hum. Genet. 94:905-914(2014)
Cited for: INTERACTION WITH CEP164 AND IFT20; VARIANTS NPHP18 PRO-87; 112-PRO--LEU-117 DEL; PRO-511; GLU-684 DEL AND GLN-692 DEL; CHARACTERIZATION OF VARIANTS NPHP18 PRO-87; 112-PRO--LEU-117 DEL; PRO-511; GLU-684 DEL AND GLN-692 DEL;
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.