Variant position: 3 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 629 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 MN QVTIQWDAVIALYILFSWCHG
Mouse MS HLTLQLHVVIALYVLFRWCHG
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 – 23
1 – 402 Missing. In isoform 7.
1 – 365 Missing. In isoform 5.
1 – 255 Missing. In isoform 6.
1 – 254 Missing. In isoform 2.
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
Duerr R.H.; Taylor K.D.; Brant S.R.; Rioux J.D.; Silverberg M.S.; Daly M.J.; Steinhart A.H.; Abraham C.; Regueiro M.; Griffiths A.; Dassopoulos T.; Bitton A.; Yang H.; Targan S.; Datta L.W.; Kistner E.O.; Schumm L.P.; Lee A.T.; Gregersen P.K.; Barmada M.M.; Rotter J.I.; Nicolae D.L.; Cho J.H.;
Cited for: INVOLVEMENT IN IBD17; VARIANTS HIS-3; PRO-310 AND GLN-381; CHARACTERIZATION OF VARIANT GLN-381;
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.