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UniProtKB/Swiss-Prot P16581: Variant p.Leu575Phe

E-selectin
Gene: SELE
Chromosomal location: 1q22-q25
Variant information

Variant position:  575
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 Leucine (L) to Phenylalanine (F) at position 575 (L575F, p.Leu575Phe).
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

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.

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



Sequence information

Variant position:  575
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:   IPLVAGLSAAGLSLLTLAPF  L LWLRKCLRKAKKFVPASSCQ
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                         IPLVAGLSAAGLSLLTLAPFLLWLRKCLRK-AKKFVPASS-CQ

                              IPLAVGLTAGGTSLLTVASFLLWLLKRLRKRAKKFVPASS-

Mouse                         RPLVVALSAAGTSLLTSSSLLYLLMRYFRKKAKKFVPASS-

Rat                           RPLVVALSVAATSLLTLSSLIYVLKRFFWKKAKKFVPASS-

Pig                           IPLAMGLAAGGVSFMTSASFLLWLLKRLRKRAKKFVPSSS-

Bovine                        TPLAVGLSTAGVSLVTIPSFLFWLLKRLQKKAKKFSPASS-

Rabbit                        VPLAVGLSVSGTSFLTLTSFLLWFLKYFRKKAKKFVPASSR

Horse                         IPLTVGLSAAGTSLLTLASFLFWLLKRLRRKAKKFVPASS-

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
Transmembrane 557 – 578 Helical


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;

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;

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;

Relationship between E-selectin L/F554 polymorphism and blood pressure in the Stanislas cohort.
Sass C.; Pallaud C.; Zannad F.; Visvikis S.;
Hum. Genet. 107:58-61(2000)
Cited for: VARIANT PHE-575;

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.