Variant position: 199 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 986 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 QIGPAEYCTDSFIMSVTIAF ATQLEQLIPCTMKLPERQPEF
Mouse QIGPAEHCTDPFILSVTIAF ATQLEQLIPCTMKLPERQPEF
Bovine QIGPAGYCTDFFIMSVTIAF ATQLEQLIPCTMKLPERQPEF
Xenopus tropicalis QIGPAEYCKDYFVLSVTIAF ATQLEQLIPSTLRLPEPQPEF
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 – 986 Centrosomal protein of 120 kDa
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Shaheen R.; Schmidts M.; Faqeih E.; Hashem A.; Lausch E.; Holder I.; Superti-Furga A.; Mitchison H.M.; Almoisheer A.; Alamro R.; Alshiddi T.; Alzahrani F.; Beales P.L.; Alkuraya F.S.;
Hum. Mol. Genet. 24:1410-1419(2015)
Cited for: INVOLVEMENT IN SRTD13; VARIANT SRTD13 PRO-199;
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Roosing S.; Romani M.; Isrie M.; Rosti R.O.; Micalizzi A.; Musaev D.; Mazza T.; Al-Gazali L.; Altunoglu U.; Boltshauser E.; D'Arrigo S.; De Keersmaecker B.; Kayserili H.; Brandenberger S.; Kraoua I.; Mark P.R.; McKanna T.; Van Keirsbilck J.; Moerman P.; Poretti A.; Puri R.; Van Esch H.; Gleeson J.G.; Valente E.M.;
J. Med. Genet. 53:608-615(2016)
Cited for: INVOLVEMENT IN JBTS31; VARIANTS JBTS31 ALA-194; VAL-549; PHE-712 AND PRO-726; VARIANTS PRO-199 AND SER-975;
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.