UniProtKB/Swiss-Prot Q5VWK5: Variant p.Leu310Pro

Interleukin-23 receptor
Gene: IL23R
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Variant information Variant position:

310 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Leucine (L) to Proline (P) at position 310 (L310P, p.Leu310Pro). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Other resources:

Links to websites of interest for the variant.

Variant rs7530511 [ dbSNP | Ensembl ]

Sequence information Variant position:

310 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:

YVFQVRCQETGKRYWQPWSS L FFHKTPETVPQVTSKAFQHD 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                         YVFQVRC--------------------QETGKRYWQPWSSLFFHKTPETVPQVTSKAFQHD

Mouse                         YVFQVRCQETGKRNWQPWSSPFVHQTSQETGKRNWQPWSSP

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	24 – 629	Interleukin-23 receptor
Topological domain	24 – 355	Extracellular
Domain	219 – 318	Fibronectin type-III 2
Alternative sequence	1 – 402	Missing. In isoform 7.
Alternative sequence	1 – 365	Missing. In isoform 5.
Alternative sequence	175 – 629	Missing. In isoform 4.

Literature citations
A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R.
Parham C.; Chirica M.; Timans J.; Vaisberg E.; Travis M.; Cheung J.; Pflanz S.; Zhang R.; Singh K.P.; Vega F.; To W.; Wagner J.; O'Farrell A.-M.; McClanahan T.K.; Zurawski S.; Hannum C.; Gorman D.; Rennick D.M.; Kastelein R.A.; de Waal Malefyt R.; Moore K.W.;
J. Immunol. 168:5699-5708(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; INTERACTION WITH IL23; IL12RB1; JAK2 AND STAT3; PHOSPHORYLATION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANT PRO-310; Identification and expression analysis of alternatively spliced isoforms of human interleukin-23 receptor gene in normal lymphoid cells and selected tumor cells.
Zhang X.-Y.; Zhang H.-J.; Zhang Y.; Fu Y.-J.; He J.; Zhu L.-P.; Wang S.-H.; Liu L.;
Immunogenetics 57:934-943(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 5); NUCLEOTIDE SEQUENCE [MRNA] OF 37-629 (ISOFORMS 1; 3 AND 4); TISSUE SPECIFICITY; VARIANT PRO-310; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 6 AND 7); VARIANT PRO-310; 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.;
Science 314:1461-1463(2006)
Cited for: INVOLVEMENT IN IBD17; VARIANTS HIS-3; PRO-310 AND GLN-381; CHARACTERIZATION OF VARIANT GLN-381; Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis.
Huffmeier U.; Lascorz J.; Bohm B.; Lohmann J.; Wendler J.; Mossner R.; Reich K.; Traupe H.; Kurrat W.; Burkhardt H.; Reis A.;
J. Invest. Dermatol. 129:355-358(2009)
Cited for: VARIANTS PRO-310 AND GLN-381; CHARACTERIZATION OF VARIANT GLN-381;

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.