Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TC44: Variant p.Arg106Pro

POC1 centriolar protein homolog B
Gene: POC1B
Feedback?
Variant information Variant position: help 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Proline (P) at position 106 (R106P, p.Arg106Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 478 The length of the canonical sequence.
Location on the sequence: help LWIPDKRGKFSEFKAHTAPV R SVDFSADGQFLATASEDKSI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LWIPDKRGKFSEFKAHTAPVRSVDFSADGQFLATASEDKSI

Mouse                         LWVLDRKGKSSEFKAHTAPVRSVDFSADGQLLVTASEDKSI

Rat                           LWVLDRKGKSSEFKAHTAPVRSVDFSADGQFLVTASEDKSI

Xenopus laevis                LWAPNIKGESTVLKAHTAVVRCVNFSSDGQTFITASDDKSI

Xenopus tropicalis            LWAPNIKGESSVLKAHTAVVRCVNFSSDGHTFITASDDKSI

Zebrafish                     LWTPSIKGESTVFKAHTASVRSVHFSRDGQRLVTASDDKSV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 478 POC1 centriolar protein homolog B
Repeat 101 – 139 WD 3



Literature citations
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S.; Lamers I.J.; de Vrieze E.; van den Born L.I.; Lambertus S.; Arts H.H.; Peters T.A.; Hoyng C.B.; Kremer H.; Hetterschijt L.; Letteboer S.J.; van Wijk E.; Roepman R.; den Hollander A.I.; Cremers F.P.; Boldt K.; de Baere E.; Klaver C.C.; Coppieters F.; Koolen D.A.; Lugtenberg D.; Neveling K.; van Reeuwijk J.; Ueffing M.; van Beersum S.E.; Zonneveld-Vrieling M.N.;
Am. J. Hum. Genet. 95:131-142(2014)
Cited for: INTERACTION WITH FAM161A; INVOLVEMENT IN CORD20; VARIANTS CORD20 GLN-67 DEL AND PRO-106; CHARACTERIZATION OF VARIANTS CORD20 GLN-67 DEL AND PRO-106; Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck B.B.; Phillips J.B.; Bartram M.P.; Wegner J.; Thoenes M.; Pannes A.; Sampson J.; Heller R.; Goebel H.; Koerber F.; Neugebauer A.; Hedergott A.; Nuernberg G.; Nuernberg P.; Thiele H.; Altmueller J.; Toliat M.R.; Staubach S.; Boycott K.M.; Valente E.M.; Janecke A.R.; Eisenberger T.; Bergmann C.; Tebbe L.; Wang Y.; Wu Y.; Fry A.M.; Westerfield M.; Wolfrum U.; Bolz H.J.;
Hum. Mutat. 35:1153-1162(2014)
Cited for: FUNCTION; TISSUE SPECIFICITY; VARIANT CORD20 PRO-106; Novel recessive cone-rod dystrophy caused by POC1B mutation.
Durlu Y.K.; Koeroglu C.; Tolun A.;
JAMA Ophthalmol. 132:1185-1191(2014)
Cited for: VARIANT CORD20 PRO-106;
Disclaimer: 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.