UniProtKB/Swiss-Prot P41595: Variant p.Arg388Trp

5-hydroxytryptamine receptor 2B
Gene: HTR2B
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Variant information Variant position:

388 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 Tryptophan (W) at position 388 (R388W, p.Arg388Trp). 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 large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

A variation at a single nucleotide base, which results in an erroneous stop codon and affects Gln-20, triggers non-sense mediated RNA decay, such that no HTR2B-receptor protein is expressed. It is associated with impulsive behavior and co-segregates with disorders characterized by impulsivity. However, the presence of this variant is not in itself sufficient to cause impulsive behavior: male sex, testosterone level, alcohol and stress exposure are other factors playing important roles. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs77982984 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

IGYVSSGVNPLVYTLFNKTF R DAFGRYITCNYRATKSVKTL 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                         IGYVSSGVNPLVYTLFNKTFRDAFGRYITCNYRATKSVKTL

Mouse                         IGYVSSGVNPLIYTLFNKTFREAFGRYITCNYRATKSVKAL

Rat                           VGYVSSGVNPLIYTLFNKTFREAFGRYITCNYQATKSVKVL

Drosophila                    LGYFNSTLNPVIYTIFNPEFRRAFKR---------------

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 – 481	5-hydroxytryptamine receptor 2B
Topological domain	383 – 481	Cytoplasmic
Lipidation	397 – 397	S-palmitoyl cysteine
Mutagenesis	370 – 370	Y -> A. Slightly decreases agonist binding.
Helix	385 – 394

Literature citations
A population-specific HTR2B stop codon predisposes to severe impulsivity.
Bevilacqua L.; Doly S.; Kaprio J.; Yuan Q.; Tikkanen R.; Paunio T.; Zhou Z.; Wedenoja J.; Maroteaux L.; Diaz S.; Belmer A.; Hodgkinson C.A.; Dell'osso L.; Suvisaari J.; Coccaro E.; Rose R.J.; Peltonen L.; Virkkunen M.; Goldman D.;
Nature 468:1061-1066(2010)
Cited for: FUNCTION; INVOLVEMENT IN IMPULSIVE BEHAVIOR; TISSUE SPECIFICITY; POLYMORPHISM; VARIANTS GLU-45; LEU-173 AND TRP-388;

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.