UniProtKB/SwissProt variant VAR

Variant information

Variant position:

187

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 Alanine (A) to Valine (V) at position 187 (A187V, p.Ala187Val).

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 hydrophobic (A) to medium size and hydrophobic (V)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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:

Genetic variations in ADRB1 are associated with inter-individual variability in the resting heart rate. This quantitative trait has been significantly correlated with cardiovascular morbidity and mortality [MIM:607276].Genetic variations in ADRB1 are associated with the familial natural short sleep 2 (FNSS2) phenotype, an autosomal dominant trait [MIM:618591]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group. -

Additional information on the polymorphism described.

Variant description:

Rare variant associated with short sleep; results in decreased adenylate cyclase-activating adrenergic receptor signaling; decreased protein stability.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs776439595 [ dbSNP | Ensembl ]

Sequence information

Variant position:

187

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

Protein sequence length:

477

The length of the canonical sequence.

Location on the sequence:

QSLLTRARARGLVCTVWAIS A LVSFLPILMHWWRAESDEAR

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                         QSLLTRARARGLVCTVWAISALVSFLPILMHWWRAESDE-AR

                              QSLLTRARARALVCTVWAISALVSFLPILMHWWRAGGDE-A

Rhesus macaque                QSLLTRARARGLVCTVWAISALVSFLPILMHWWRAESDE-A

Mouse                         QSLLTRARARALVCTVWAISALVSFLPILMHWWRAESDE-A

Rat                           QSLLTRARARALVCTVWAISALVSFLPILMHWWRAESDE-A

Pig                           QSLLTRA-ARALVCTVWAISALVSFLPILMHWWRDKGAE-A

Bovine                        QSLLTRARARALVCTVWAISALVSFLPIFMQWWGDKDAK-A

Sheep                         QSLLTRARARALVCTVWAISALVSFLPIFMQWWGDKDAK-A

Cat                           QSLLTRARARALVCTVWAISALVSFLPILMHWWRAEGDE-A

Xenopus laevis                QSLLTKGRAKGIVCSVWGISALVSFLPIMMHWWRDTGDPLA

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 – 477	Beta-1 adrenergic receptor
Transmembrane	173 – 196	Helical; Name=4
Disulfide bond	131 – 216
Helix	172 – 195

Literature citations

A rare mutation of beta1-adrenergic receptor affects sleep/wake behaviors.
Shi G.; Xing L.; Wu D.; Bhattacharyya B.J.; Jones C.R.; McMahon T.; Chong S.Y.C.; Chen J.A.; Coppola G.; Geschwind D.; Krystal A.; Ptacek L.J.; Fu Y.H.;
Neuron 0:0-0(2019)
Cited for: VARIANT VAL-187; CHARACTERIZATION OF VARIANT VAL-187; FUNCTION; POLYMORPHISM;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08588: Variant p.Ala187Val