UniProtKB/Swiss-Prot P48357: Variant p.Gln223Arg

Leptin receptor
Gene: LEPR
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Variant information Variant position:

223 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 Glutamine (Q) to Arginine (R) at position 223 (Q223R, p.Gln223Arg). 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 medium size and polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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 rs1137101 [ dbSNP | Ensembl ]

Sequence information Variant position:

223 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1165 The length of the canonical sequence.
Location on the sequence:

AKLNDTLLMCLKITSGGVIF Q SPLMSVQPINMVKPDPPLGL 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                         AKLNDTLLMCLKITSGGVIFQSPLMSVQPINMVKPDPPLGL

Rhesus macaque                AKLNDTLLMCLKITSGGVIFQSPLMSVQPINMVKPDPPLGL

Mouse                         AKLNYALLMYLEITSAGVSFQSPLMSLQPMLVVKPDPPLGL

Rat                           AKVNYALLMYLEITSAGVSFQSPLMSLQPMLVVKPDPPLGL

Pig                           AKLNYTLLMYLKITSGGAVFHSPLMSVQPINVVKPDPPLGL

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	22 – 1165	Leptin receptor
Topological domain	22 – 839	Extracellular
Glycosylation	206 – 206	N-linked (GlcNAc...) asparagine

Literature citations
Novel B219/OB receptor isoforms: possible role of leptin in hematopoiesis and reproduction.
Cioffi J.A.; Shafer A.W.; Zupancic T.J.; Smith-Gbur J.; Mikhail A.; Platika D.; Snodgrass H.R.;
Nat. Med. 2:585-589(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; C AND D); VARIANTS ARG-109 AND ARG-223; Structure and sequence variation at the human leptin receptor gene in lean and obese Pima Indians.
Thompson D.B.; Ravussin E.; Bennett P.H.; Bogardus C.;
Hum. Mol. Genet. 6:675-679(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM B); VARIANTS ARG-109 AND ARG-223; The hypothalamic leptin receptor in humans: identification of incidental sequence polymorphisms and absence of the db/db mouse and fa/fa rat mutations.
Considine R.V.; Considine E.L.; Williams C.J.; Hyde T.M.; Caro J.F.;
Diabetes 45:992-994(1996)
Cited for: VARIANT ARG-223; Amino acid variants in the human leptin receptor: lack of association to juvenile onset obesity.
Echwald S.M.; Soerensen T.D.; Soerensen T.I.; Tybjaerg-Hansen A.; Andersen T.; Chung W.K.; Leibel R.L.; Pedersen O.;
Biochem. Biophys. Res. Commun. 233:248-252(1997)
Cited for: VARIANTS ARG-109; ARG-204; ARG-223 AND ASN-656; Exonic and intronic sequence variation in the human leptin receptor gene (LEPR).
Chung W.K.; Power-Kehoe L.; Chua M.; Chu F.; Aronne L.; Huma Z.; Sothern M.; Udall J.N.; Kahle B.; Leibel R.L.;
Diabetes 46:1509-1511(1997)
Cited for: VARIANTS ARG-109; ARG-223 AND ASN-656; Leptin receptor gene variation and obesity: lack of association in a white British male population.
Gotoda T.; Manning B.S.; Goldstone A.P.; Imrie H.; Evans A.L.; Strosberg A.D.; McKeigue P.M.; Scott J.; Aitman T.J.;
Hum. Mol. Genet. 6:869-876(1997)
Cited for: VARIANTS ARG-109; ARG-223 AND ASN-656; Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents.
Roth H.; Korn T.; Rosenkranz K.; Hinney A.; Ziegler A.; Kunz J.; Siegfried W.; Mayer H.; Hebebrand J.; Grzeschik K.-H.;
Hum. Genet. 103:540-546(1998)
Cited for: VARIANTS ARG-109; ARG-223; ASN-656 AND THR-675; DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
Ley T.J.; Mardis E.R.; Ding L.; Fulton B.; McLellan M.D.; Chen K.; Dooling D.; Dunford-Shore B.H.; McGrath S.; Hickenbotham M.; Cook L.; Abbott R.; Larson D.E.; Koboldt D.C.; Pohl C.; Smith S.; Hawkins A.; Abbott S.; Locke D.; Hillier L.W.; Miner T.; Fulton L.; Magrini V.; Wylie T.; Glasscock J.; Conyers J.; Sander N.; Shi X.; Osborne J.R.; Minx P.; Gordon D.; Chinwalla A.; Zhao Y.; Ries R.E.; Payton J.E.; Westervelt P.; Tomasson M.H.; Watson M.; Baty J.; Ivanovich J.; Heath S.; Shannon W.D.; Nagarajan R.; Walter M.J.; Link D.C.; Graubert T.A.; DiPersio J.F.; Wilson R.K.;
Nature 456:66-72(2008)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-109 AND ARG-223;

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