UniProtKB/Swiss-Prot P08588: Variant p.Arg399His

Beta-1 adrenergic receptor
Gene: ADRB1
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Variant information Variant position:

399 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 Arginine (R) to Histidine (H) at position 399 (R399H, p.Arg399His). 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 (R) to medium size and polar (H) 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.
Other resources:

Links to websites of interest for the variant.

Variant rs36052953 [ dbSNP | Ensembl ]

Sequence information Variant position:

399 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:

RSPDFRKAFQGLLCCARRAA R RRHATHGDRPRASGCLARPG 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                         RSPDFRKAFQGLLCCARRAARRRHATHGDRPRASGCLARPG

                              RSPDFRRAFQRLLCCARRAARGSHGAAGDPPRA-------R

Rhesus macaque                RSPDFRNAFQRLLCCARRAARRRHAAHGDRPRASGCLARPG

Mouse                         RSPDFRKAFQRLLCCARRAACRRRAAHGDRPRASGCLARAG

Rat                           RSPDFRKAFQRLLCCARRAACRRRAAHGDRPRASGCLARAG

Pig                           RSPDFRKAFQRLLCCARRVARGSCAAAGDGPRASGCLAVAR

Bovine                        RSPDFRKAFQRLLCCARRAACGSHAAAGDPPRALGCLAVAR

Sheep                         RSPDFRKAFQRLLCCARRAACGSHGAAGDPPRAAGCLAVAR

Cat                           RSPDFRKAFQRLLCFARRAARGGHAAAGDRPRASGCLPGTR

Xenopus laevis                RSPDFRKAFKRLLCCPKKADRHLHTT-GELSRYSGGFVNSL

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
Topological domain	378 – 477	Cytoplasmic
Modified residue	412 – 412	Phosphoserine; by PKA
Lipidation	392 – 392	S-palmitoyl cysteine

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.