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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96NL8: Variant p.Arg177Trp

Cilia- and flagella-associated protein 418
Gene: CFAP418
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Variant information Variant position: help 177 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 Tryptophan (W) at position 177 (R177W, p.Arg177Trp). 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 large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 CORD16 and BBS21; does not affect interaction with FAM161A.. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 177 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 207 The length of the canonical sequence.
Location on the sequence: help RNNMPEFHKLKAKLIKKKGT R AYACQCSWRTIEEVTDLQTD 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                         RNNMPEFHKLKAKLIKKKGTRAYACQCSWRTIEEVTDLQTD

Mouse                         RNNMPEFHKLKTKLIEKKGARAYACQCSWRTVEELTDLQTD

Rat                           RNNMPEFHKLKTKLIEKKGARAYACQCSWRTVEELTDLQAD

Bovine                        RNNMPEFHKLKTKLVKKKGTRAYACQCSWKAVEELTDLQTD

Zebrafish                     RNNMPDYHKLKVHLRRRAGVRAYACQCSWISILTLSHLREQ
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 – 207 Cilia- and flagella-associated protein 418



Literature citations
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano A.; Neveling K.; Kohl S.; Banin E.; Rotenstreich Y.; Sharon D.; Falik-Zaccai T.C.; Hipp S.; Roepman R.; Wissinger B.; Letteboer S.J.; Mans D.A.; Blokland E.A.; Kwint M.P.; Gijsen S.J.; van Huet R.A.; Collin R.W.; Scheffer H.; Veltman J.A.; Zrenner E.; den Hollander A.I.; Klevering B.J.; Cremers F.P.;
Am. J. Hum. Genet. 90:102-109(2012)
Cited for: INVOLVEMENT IN CORD16; INVOLVEMENT IN RP64; VARIANT CORD16 TRP-177; VARIANT RP64 ARG-182; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Khan A.O.; Decker E.; Bachmann N.; Bolz H.J.; Bergmann C.;
Ophthalmic Genet. 37:290-293(2016)
Cited for: INVOLVEMENT IN BBS21; VARIANT BBS21 TRP-177; Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
Liu Y.; Chen J.; Sager R.; Sasaki E.; Hu H.;
Int. J. Mol. Sci. 23:12033-12033(2022)
Cited for: CHARACTERIZATION OF VARIANTS CORD16/BBS21 TRP-177 AND RP64 TRP-182; INTERACTION WITH FAM161A;
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.