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UniProtKB/Swiss-Prot P16581: Variant p.Ser149Arg

E-selectin
Gene: SELE
Variant information

Variant position:  149
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Arginine (R) at position 149 (S149R, p.Ser149Arg).
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 small size and polar (S) 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

Polymorphism:  A polymorphism in position 149 is associated with a higher risk of coronary artery disease (CAD). A significantly higher mutation frequency (Arg-149) is observed in patients with angiographically proven severe atherosclerosis compared with an unselected population (Ser-149).
Additional information on the polymorphism described.

Variant description:  Polymorphism associated with coronary artery disease; no effect on ligand-specificity; may increase levels of rolling and adhesion of neutrophils and peripheral blood mononuclear cells to the endothelium; may induce constitutive stimulation of the MAPK signaling pathway, in the absence of leukocyte adhesion.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  149
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  610
The length of the canonical sequence.

Location on the sequence:   RCSKKKLALCYTAACTNTSC  S GHGECVETINNYTCKCDPGF
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                         RCSKKKLALCYTAACTNTSCSGHGECVETINNYTCKCDPGF

                              RCDKKKLALCYTAACTPTSCSGHGECVETVNNYTCKCHPGF

Mouse                         RCNKKKLALCYTASCTNASCSGHGECIETINSYTCKCHPGF

Rat                           RCDKKKLALCYTASCTNTSCSGHGECVETINSYTCKCHPGF

Pig                           RCSKKKLALCYTAACTPTSCSGHGECIETINSSTCQCYPGF

Bovine                        KCTKQKLALCYKAACNPTPCGSHGECVETINNYTCQCHPGF

Rabbit                        RCSKKKLALCYTAACTEASCSGHGECIETINNYSCKCYPGF

Horse                         NCNKKKLALCYTAACTHTSCSGHGECVETINNYTCQCHPGF

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.

TypePositionsDescription
Chain 22 – 610 E-selectin
Topological domain 22 – 556 Extracellular
Domain 140 – 175 EGF-like
Glycosylation 145 – 145 N-linked (GlcNAc...) asparagine
Glycosylation 160 – 160 N-linked (GlcNAc...) asparagine
Disulfide bond 143 – 154
Disulfide bond 148 – 163
Helix 147 – 150


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-21; ILE-31; ARG-149; PRO-257; LYS-295; GLN-421; TYR-468; SER-550 AND PHE-575;

E-selectin polymorphism and atherosclerosis: an association study.
Wenzel K.; Felix S.; Kleber F.X.; Brachold R.; Menke T.; Schattke S.; Schulte K.L.; Glaser C.; Rohde K.; Baumann G.; Speer A.;
Hum. Mol. Genet. 3:1935-1937(1994)
Cited for: VARIANT ARG-149;

DNA polymorphisms in adhesion molecule genes -- a new risk factor for early atherosclerosis.
Wenzel K.; Ernst M.; Rohde K.; Baumann G.; Speer A.;
Hum. Genet. 97:15-20(1996)
Cited for: VARIANTS ARG-149 AND PHE-575;

A PstI polymorphism detects the mutation of serine-128 to arginine in CD 62E gene - a risk factor for coronary artery disease.
Ye S.Q.; Usher D.; Virgil D.; Zhang L.Q.; Yochim S.E.; Gupta R.;
J. Biomed. Sci. 6:18-21(1999)
Cited for: VARIANT ARG-149;

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANTS ARG-149; TYR-468 AND PHE-575;

E-selectin polymorphism associated with myocardial infarction causes enhanced leukocyte-endothelial interactions under flow conditions.
Yoshida M.; Takano Y.; Sasaoka T.; Izumi T.; Kimura A.;
Arterioscler. Thromb. Vasc. Biol. 23:783-788(2003)
Cited for: VARIANT ARG-149; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ARG-149;

Implications of the E-selectin S128R mutation for drug discovery.
Preston R.C.; Rabbani S.; Binder F.P.; Moes S.; Magnani J.L.; Ernst B.;
Glycobiology 24:592-601(2014)
Cited for: CHARACTERIZATION OF VARIANT ARG-149;

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.