UniProtKB/Swiss-Prot P05362: Variant p.Gly241Arg

Intercellular adhesion molecule 1
Gene: ICAM1
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Variant information Variant position:

241 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 Glycine (G) to Arginine (R) at position 241 (G241R, p.Gly241Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Variant p.Lys56Met, known as ICAM1-Kilifi, may influence susceptibility to cerebral malaria [MIM:611162]. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1799969 [ dbSNP | Ensembl ]

Sequence information Variant position:

241 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:

LVSPRVLEVDTQGTVVCSLD G LFPVSEAQVHLALGDQRLNP 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                         LVSPRVLEVDTQGTVVCSLDGLFPVSEAQVHLALGDQRLNP

Gorilla                       LVSPRVLEVDTQGTVVCSLDGLFPVSEAQVHLALGDQRLNP

Rhesus macaque                LVSPQVLEVDTQGTVVCSLDGLFPVSEAQVSLALGDQKLNP

Chimpanzee                    LVSPRVLEVDTQGTVVCSLDGLFPVLEAQVHLALGDQRLNP

Mouse                         LDTPDLLEVGTQQKLFCSLEGLFPASEARIYLELGGQMPTQ

Rat                           LDTPDLLEVGTQQKFLCSLEGLFPASEAQIYLEMGGQMLTL

Bovine                        LEVPPIVEVGSRWPVNCTLDGLFPASDAKVYLVLGDQKLES

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	28 – 532	Intercellular adhesion molecule 1
Topological domain	28 – 480	Extracellular
Domain	230 – 297	Ig-like C2-type 3
Disulfide bond	237 – 290
Beta strand	231 – 241

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT MET-56; VARIANTS ARG-241; LEU-352; GLN-397 AND TRP-478; 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; 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: VARIANT ARG-241;

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.