UniProtKB/Swiss-Prot P43220: Variant p.Leu260Phe

Glucagon-like peptide 1 receptor
Gene: GLP1R
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Variant information Variant position:

260 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 Phenylalanine (F) at position 260 (L260F, p.Leu260Phe). 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 hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs1042044 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NYYWLLVEGVYLYTLLAFSV L SEQWIFRLYVSIGWGVPLLF 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                         NYYWLLVEGVYLYTLLAFSVLSEQWIFRLYVSIGWGVPLLF

Mouse                         NYYWLLVEGVYLYTLLAFSVFSEQRIFKLYLSIGWGVPLLF

Rat                           NYYWLLVEGVYLYTLLAFSVFSEQRIFKLYLSIGWGVPLLF

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 – 463	Glucagon-like peptide 1 receptor
Topological domain	252 – 265	Cytoplasmic
Disulfide bond	226 – 296

Literature citations
Cloning and functional expression of the human islet GLP-1 receptor. Demonstration that exendin-4 is an agonist and exendin-(9-39) an antagonist of the receptor.
Thorens B.; Porret A.; Buehler L.; Deng S.; Morel P.; Widmann C.;
Diabetes 42:1678-1682(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; VARIANT PHE-260; Cloning and functional expression of the human glucagon-like peptide-1 (GLP-1) receptor.
Dillon J.S.; Tanizawa Y.; Wheeler M.B.; Leng X.; Ligon B.B.; Rabin D.U.; Yoo-Warren H.; Permutt M.; Boyd A.E.;
Endocrinology 133:1907-1910(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PHE-260; Cloning and functional expression of a human glucagon-like peptide-1 receptor.
Graziano M.P.; Hey P.J.; Borkowski D.; Chicchi G.C.; Strader C.D.;
Biochem. Biophys. Res. Commun. 196:141-146(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; VARIANT PHE-260; Tissue-specific expression of the human receptor for glucagon-like peptide-I: brain, heart and pancreatic forms have the same deduced amino acid sequences.
Wei Y.; Mojsov S.;
FEBS Lett. 358:219-224(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PHE-260; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-7; LYS-20; HIS-44; GLN-131; SER-168; PHE-260; THR-316; CYS-333 AND GLN-421; 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]; VARIANT PHE-260;

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.