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UniProtKB/Swiss-Prot Q96NL8: Variant p.Arg177Trp

Protein C8orf37
Gene: C8orf37
Variant information

Variant position:  177
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  -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

Involvement in disease:  Cone-rod dystrophy 16 (CORD16) [MIM:614500]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:22177090}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Involvement in disease:  Bardet-Biedl syndrome 21 (BBS21) [MIM:617406]: A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:26854863, ECO:0000269|PubMed:27008867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CORD16 and BBS21.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  177
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  207
The length of the canonical sequence.

Location on the sequence:   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: 
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:  
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 Protein C8orf37


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;

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.