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:
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 RNNMPEFHKLKAKLIKKKGT RAYACQCSWRTIEEVTDLQTD
Mouse RNNMPEFHKLKTKLIEKKGA RAYACQCSWRTVEELTDLQTD
Rat RNNMPEFHKLKTKLIEKKGA RAYACQCSWRTVEELTDLQAD
Bovine RNNMPEFHKLKTKLVKKKGT RAYACQCSWKAVEELTDLQTD
Zebrafish RNNMPDYHKLKVHLRRRAGV RAYACQCSWISILTLSHLREQ
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 – 207 Protein C8orf37
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;
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.