Sequence information
Variant position: 671 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 715 The length of the canonical sequence.
Location on the sequence:
EEADHLQEEYKKQPAHLERL
Y GMITDLFIDKFKFKGTNVKT
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 EEADHLQEEYKKQPAHLERLY GMITDLFIDKFKFKGTNVKT
Mouse EEADHLQEEYKKQPAHLERLY GMITDLFIDKFKFKGTNVKT
Caenorhabditis elegans KDHDAIYEKSEGVSIEDSGVL AILENLMVARGKLTGRSSKG
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
Chain
1 – 715
Bardet-Biedl syndrome 7 protein
Literature citations
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis E.E.; Zhang Q.; Liu Q.; Diplas B.H.; Davey L.M.; Hartley J.; Stoetzel C.; Szymanska K.; Ramaswami G.; Logan C.V.; Muzny D.M.; Young A.C.; Wheeler D.A.; Cruz P.; Morgan M.; Lewis L.R.; Cherukuri P.; Maskeri B.; Hansen N.F.; Mullikin J.C.; Blakesley R.W.; Bouffard G.G.; Gyapay G.; Rieger S.; Tonshoff B.; Kern I.; Soliman N.A.; Neuhaus T.J.; Swoboda K.J.; Kayserili H.; Gallagher T.E.; Lewis R.A.; Bergmann C.; Otto E.A.; Saunier S.; Scambler P.J.; Beales P.L.; Gleeson J.G.; Maher E.R.; Attie-Bitach T.; Dollfus H.; Johnson C.A.; Green E.D.; Gibbs R.A.; Hildebrandt F.; Pierce E.A.; Katsanis N.;
Nat. Genet. 43:189-196(2011)
Cited for: VARIANT CYS-671; INVOLVEMENT IN CILIOPATHIES;
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.