UniProtKB/Swiss-Prot P21802: Variant p.Gly613Arg

Fibroblast growth factor receptor 2
Gene: FGFR2
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Variant information Variant position:

613 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 Glycine (G) to Arginine (R) at position 613 (G613R, p.Gly613Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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

Sequence information Variant position:

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

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

VPEEQMTFKDLVSCTYQLAR G MEYLASQKCIHRDLAARNVL 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                         VPEEQMTFKDLVSCTYQLARGMEYLASQKCIHRDLAARNVL

Mouse                         VPEEQMTFKDLVSCTYQLARGMEYLASQKCIHRDLAARNVL

Chicken                       VPEEQMTFKDLVSCTYQLARGMEYLASQKCIHRDLAARNVL

Xenopus laevis                VPDEQMTFKDLVSCTYQIARGMEYLASQKCIHRDLAARNVL

Zebrafish                     VSDEPLTFKDLVSCTYQVARGMEYLASQKCIHRDLAARNVL

Drosophila                    ISTQHLGEKELTKFAFQIARGMEYLASRRCIHRDLAARNVL

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 – 821	Fibroblast growth factor receptor 2
Topological domain	399 – 821	Cytoplasmic
Domain	481 – 770	Protein kinase
Active site	626 – 626	Proton acceptor
Alternative sequence	255 – 821	Missing. In isoform 8.
Alternative sequence	366 – 821	Missing. In isoform 13.
Helix	600 – 619

Literature citations
Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene.
Miki T.; Bottaro D.P.; Fleming T.P.; Smith C.L.; Burgess W.H.; Chan A.M.-L.; Aaronson S.A.;
Proc. Natl. Acad. Sci. U.S.A. 89:246-250(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3; 13 AND 16); SUBUNIT; DOMAIN; VARIANT ARG-613; Deletion of the carboxyl-terminal exons of K-sam/FGFR2 by short homology-mediated recombination, generating preferential expression of specific messenger RNAs.
Ueda T.; Sasaki H.; Kuwahara Y.; Nezu M.; Shibuya T.; Sakamoto H.; Ishii H.; Yanagihara K.; Mafune K.; Makuuchi M.; Terada M.;
Cancer Res. 59:6080-6086(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-613;

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.