UniProtKB/Swiss-Prot P28472: Variant p.Arg217His

Gamma-aminobutyric acid receptor subunit beta-3
Gene: GABRB3
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Variant information Variant position:

217 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 217 (R217H, p.Arg217His). 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:

GABRB3 variants may be associated with insomnia, a condition of inability to initiate or maintain sleep [MIM:137192]. Additional information on the polymorphism described.
Variant description:

Found in a subject suffering from insomnia; functional analysis reveals a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2S GABA(A) receptors; current deactivation is faster in the mutated receptors. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121913125 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DKAVTGVERIELPQFSIVEH R LVSRNVVFATGAYPRLSLSF 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                         DKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSF

Mouse                         DKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSF

Rat                           DKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSF

Chicken                       DNAVTGVERIELPQFSIVEYRLVSKNVVFATGAYPRLSLSF

Drosophila                    PTPVRGVEDAELPQFTIIGYETNDRKERLATGVYQRLSLSF

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	26 – 473	Gamma-aminobutyric acid receptor subunit beta-3
Topological domain	26 – 245	Extracellular
Binding site	225 – 225
Beta strand	209 – 224

Literature citations
Functional characterization of the new human GABA(A) receptor mutation beta3(R192H).
Buhr A.; Bianchi M.T.; Baur R.; Courtet P.; Pignay V.; Boulenger J.P.; Gallati S.; Hinkle D.J.; Macdonald R.L.; Sigel E.;
Hum. Genet. 111:154-160(2002)
Cited for: VARIANT HIS-217; CHARACTERIZATION OF VARIANT HIS-217;

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.