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UniProtKB/Swiss-Prot P05362: Variant p.Lys469Glu

Intercellular adhesion molecule 1
Gene: ICAM1
Variant information

Variant position:  469
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 Lysine (K) to Glutamate (E) at position 469 (K469E, p.Lys469Glu).
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 large size and basic (K) to medium size and acidic (E)
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:  Homozygotes with ICAM1-Kalifi Met-56 seem to have an increased risk for cerebral malaria [MIM:611162].
Additional information on the polymorphism described.

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



Sequence information

Variant position:  469
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  532
The length of the canonical sequence.

Location on the sequence:   RDLEGTYLCRARSTQGEVTR  K VTVNVLSPRYEIVIITVVAA
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                         RDLEGTYLCRARSTQGEVTRKVTVNVL--SPRYEIVIITVVAA

Gorilla                       RDLEGTYLCRARSTQGEVTREVTVNVL--SPRYEFVIIAVV

Rhesus macaque                RDLEGTYLCQARSTRGEVTREVTVNVL--SPRYEVVIIPVV

Chimpanzee                    RDLEGTYLCRARSTQGEVTRKVTVNVL--SPRYEIVIITVV

Mouse                         QEMNGTYVCHAFSSHGNVTRNVYLTVLYHSQNNWTIIILVP

Rat                           REMNGTYKCRAFSSRGSITRDVHLTVLYHDQNTWVIIVGVL

Bovine                        REVAGTYLCRATSARGRVTREVVLNVL-HGQNILDIVIPVV

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 – 532 Intercellular adhesion molecule 1
Topological domain 28 – 480 Extracellular
Beta strand 464 – 475


Literature citations

ICAM, an adhesion ligand of LFA-1, is homologous to the neural cell adhesion molecule NCAM.
Simmons D.; Makgoba M.W.; Seed B.;
Nature 331:624-627(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLU-469;

Primary structure of ICAM-1 demonstrates interaction between members of the immunoglobulin and integrin supergene families.
Staunton D.E.; Marlin S.D.; Stratowa C.; Dustin M.L.; Springer T.A.;
Cell 52:925-933(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLU-469;

Cloning of the human gene for intercellular adhesion molecule 1 and analysis of its 5'-regulatory region. Induction by cytokines and phorbol ester.
Voraberger G.F.; Schaefer R.; Stratowa C.;
J. Immunol. 147:2777-2786(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLU-469;

The potential significance of adaptive evolution and dimerization in chimpanzee intercellular cell adhesion molecules (ICAMs).
Walter N.A.R.; Stebbing J.; Messier W.;
J. Theor. Biol. 232:339-346(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-532; VARIANT GLU-469;

Polymorphisms and linkage analysis for ICAM-1 and the selectin gene cluster.
Vora D.K.; Rosenbloom C.L.; Beaudet A.L.; Cottingham R.W.;
Genomics 21:473-477(1994)
Cited for: VARIANTS ARG-241 AND GLU-469;

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: VARIANT KILIFI MET-56; VARIANT GLU-469;

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.