UniProtKB/Swiss-Prot P07550: Variant p.Lys375Arg

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

375 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 Lysine (K) to Arginine (R) at position 375 (K375R, p.Lys375Arg). 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 large size and basic. 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:

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 rs771585355 [ dbSNP | Ensembl ]

Sequence information Variant position:

375 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:

SSNGNTGEQSGYHVEQEKEN K LLCEDLPGTEDFVGHQGTVP 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                         SSNGN-----TGEQSGYHVEQEKENKLLCEDLPGTEDFVGHQGTVP

                              SNNSNSRSDYAGEHSGCHLGQEKDSELLCEDPPGTED---R

Rhesus macaque                SSNSNGN---TGEQSGYHLEQEKENKLLCEDLPGTEDFVGH

Mouse                         SSNSNGRTDYTGEPNTCQLGQEREQELLCEDPPGMEGFVNC

Rat                           SSNSNGRTDYTGEQSAYQLGQEKENELLCEEAPGMEGFVNC

Pig                           SSNSNGRTDYTGEQSGCYLGEEKDSERLCEDAPGPEGCAHR

Bovine                        SSNSNDRTDYTGEQSGYHLGEEKDSELLCEDPPGTENFVNQ

Cat                           SNNSNSRTDYAGEHSGGPLGQEKDSEVLCEDPPGTENLANR

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
Topological domain	330 – 413	Cytoplasmic
Modified residue	355 – 355	Phosphoserine; by BARK
Modified residue	356 – 356	Phosphoserine; by BARK
Modified residue	382 – 382	4-hydroxyproline
Modified residue	395 – 395	4-hydroxyproline
Mutagenesis	366 – 366	Y -> F. Does not affect insulin-induced tyrosine phosphorylation or insulin-induced receptor supersensitization.

Literature citations
Beta2-adrenergic receptor allele frequencies in the Quechua, a high altitude native population.
Rupert J.L.; Monsalve M.V.; Devine D.V.; Hochachka P.W.;
Ann. Hum. Genet. 64:135-143(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-27; LEU-159; PHE-159 AND ARG-375;

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.