UniProtKB/Swiss-Prot P07550: Variant p.Ser220Cys

Beta-2 adrenergic receptor
Gene: ADRB2
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Variant information Variant position:

220 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 Serine (S) to Cysteine (C) at position 220 (S220C, p.Ser220Cys). 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 medium size and polar (C) 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:

The Gly-16 allele is overrepresented in individuals affected by nocturnal asthma as compared to controls, and appears to be an important genetic factor in the expression of this asthmatic phenotype. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs3729943 [ dbSNP | Ensembl ]

Sequence information Variant position:

220 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

413 The length of the canonical sequence.
Location on the sequence:

AIASSIVSFYVPLVIMVFVY S RVFQEAKRQLQKIDKSEGRF 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                         AIASSIVSFYVPLVIMVFVYSRVFQEAKRQLQKIDKSEGRF

                              AIASSIVSFYLPLVVMVFVYSRVFQVAQRQLQKIDRSEGRF

Rhesus macaque                AIASSIVSFYVPLVIMVFVYSRVFQEAKRQLQKIDKSEGRF

Mouse                         AIASSIVSFYVPLVVMVFVYSRVFQVAKRQLQKIDKSEGRF

Rat                           AIASSIVSFYVPLVVMVFVYSRVFQVAKRQLQKIDKSEGRF

Pig                           AIASSIVSFYLPLVVMVFVYSRVFQVARRQLQKIDKSEGRF

Bovine                        AIASSIVSFYLPLVVMVFVYSRVFQVAKRQLQKIDKSEGRF

Cat                           AIASSIVSFYLPLVVMVFVYSRVFQVAQRQLQKIDKSEGRF

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	1 – 413	Beta-2 adrenergic receptor
Transmembrane	197 – 220	Helical; Name=5
Binding site	203 – 203
Helix	209 – 229

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-27 AND CYS-220;

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.