UniProtKB/Swiss-Prot P16234: Variant p.Asn659Lys

Platelet-derived growth factor receptor alpha
Gene: PDGFRA
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Variant information Variant position:

659 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 Asparagine (N) to Lysine (K) at position 659 (N659K, p.Asn659Lys). 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 (N) to large size and basic (K) 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
Variant description:

In GIST sample; constitutively activated kinase. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1057519700 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1089 The length of the canonical sequence.
Location on the sequence:

QALMSELKIMTHLGPHLNIV N LLGACTKSGPIYIITEYCFY 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                         QALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFY

Mouse                         QALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFY

Rat                           QALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFY

Chicken                       QALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFY

Xenopus laevis                QALMSELKIMTHLGAHLNIVNLLGACTKSGPIYIITEYCFY

Zebrafish                     QALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFY

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 – 1089	Platelet-derived growth factor receptor alpha
Topological domain	550 – 1089	Cytoplasmic
Domain	593 – 954	Protein kinase
Alternative sequence	219 – 1089	Missing. In isoform 2.

Literature citations
PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib.
Corless C.L.; Schroeder A.; Griffith D.; Town A.; McGreevey L.; Harrell P.; Shiraga S.; Bainbridge T.; Morich J.; Heinrich M.C.;
J. Clin. Oncol. 23:5357-5364(2005)
Cited for: INVOLVEMENT IN GIST; VARIANTS ASP-561; LYS-659; TYR-842; VAL-842; 842-ASP--HIS-845 DEL; 845-HIS--PRO-448 DEL AND CYS-849; CHARACTERIZATION OF VARIANTS ASP-561; LYS-659; TYR-842; VAL-842; 842-ASP--HIS-845 DEL; 845-HIS--PRO-448 DEL AND CYS-849; ACTIVITY REGULATION;

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.