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UniProtKB/Swiss-Prot P16284: Variant p.Val125Leu

Platelet endothelial cell adhesion molecule
Gene: PECAM1
Variant information

Variant position:  125
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 Valine (V) to Leucine (L) at position 125 (V125L, p.Val125Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

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



Sequence information

Variant position:  125
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  738
The length of the canonical sequence.

Location on the sequence:   GTYKCTVIVNNKEKTTAEYQ  V LVEGVPSPRVTLDKKEAIQG
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                         GTYKCTVIVNNKEKTTAEYQVLVEGVPSPRVTLDKKEAIQG

Mouse                         GKYKCTVMLNNKEKTTIEYEVKVHGVSKPKVTLDKKEVTEG

Rat                           GKYKCTVILNSKEKTTIEYQLTVNGVPMPEVTVDKKEVTEG

Pig                           GRYKCTVILNNKEKTTAEYKVVVEGVSNPRVTLDKKEVIEG

Bovine                        GRYKCNVILNNKEKTTPEYEVWVKGVSDPRVTLDKKEVIEG

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 28 – 738 Platelet endothelial cell adhesion molecule
Topological domain 28 – 601 Extracellular
Mutagenesis 112 – 112 I -> E. Reduced homophilic cell adhesion; when associated with E-74; E-188 and E-190.
Beta strand 123 – 128


Literature citations

PECAM-1 (CD31) cloning and relation to adhesion molecules of the immunoglobulin gene superfamily.
Newman P.J.; Berndt M.C.; Gorski J.; White J.C. II; Lyman S.; Paddock C.; Muller W.A.;
Science 247:1219-1222(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANT LEU-125;

CD31/PECAM-1 genotyping and haplotype analyses show population diversity.
Robbins F.-M.; Hartzman R.J.;
Tissue Antigens 69:28-37(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-734 (ISOFORM LONG); VARIANTS LEU-125; ASN-563 AND GLY-670;

Polymorphism of adhesion molecule CD31 and its role in acute graft-versus-host disease.
Behar E.; Chao N.J.; Hiraki D.D.; Krishnaswamy S.; Brown B.W.; Zehnder J.L.; Grumet F.C.;
N. Engl. J. Med. 334:286-291(1996)
Cited for: VARIANT LEU-125;

Codon 125 polymorphism of CD31 and susceptibility to malaria.
Casals-Pascual C.; Allen S.; Allen A.; Kai O.; Lowe B.; Pain A.; Roberts D.J.;
Am. J. Trop. Med. Hyg. 65:736-737(2001)
Cited for: VARIANT LEU-125;

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.