UniProtKB/Swiss-Prot Q9UBS5: Variant p.Gly489Ser

Gamma-aminobutyric acid type B receptor subunit 1
Gene: GABBR1
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Variant information Variant position:

489 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 Glycine (G) to Serine (S) at position 489 (G489S, p.Gly489Ser). 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 glycine (G) to small size and polar (S) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1805057 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LAYDAIWALALALNKTSGGG G RSGVRLEDFNYNNQTITDQI 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                         LAYDAIWALALALNKTSGGGGRSGVRLEDFNYNNQTITDQI

Mouse                         LAYDAIWALALALNKTSGGGGRSGVRLEDFNYNNQTITDQI

Rat                           LAYDAIWALALALNKTSGGGGRSGVRLEDFNYNNQTITDQI

Caenorhabditis elegans        LAYDAVWALALAFNCTR-NNLPSHIRLENFTYDNKVIADTL

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	20 – 961	Gamma-aminobutyric acid type B receptor subunit 1
Topological domain	20 – 591	Extracellular
Glycosylation	482 – 482	N-linked (GlcNAc...) asparagine
Glycosylation	502 – 502	N-linked (GlcNAc...) asparagine

Literature citations
Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy.
Peters H.C.; Kaemmer G.; Volz A.; Kaupmann K.; Ziegler A.; Bettler B.; Epplen J.T.; Sander T.; Riess O.;
Neurogenetics 2:47-54(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1A AND 1B); VARIANTS VAL-20 AND SER-489; Characterization of gamma-aminobutyric acid receptor GABAB(1e), a GABAB(1) splice variant encoding a truncated receptor.
Schwarz D.A.; Barry G.; Eliasof S.D.; Petroski R.E.; Conlon P.J.; Maki R.A.;
J. Biol. Chem. 275:32174-32181(2000)
Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1E); FUNCTION; SUBUNIT; INTERACTION WITH GABBR2; TISSUE SPECIFICITY; VARIANT SER-489; Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy.
Sander T.; Peters C.; Kaemmer G.; Samochowiec J.; Zirra M.; Mischke D.; Ziegler A.; Kaupmann K.; Bettler B.; Epplen J.T.; Riess O.;
Am. J. Med. Genet. 88:305-310(1999)
Cited for: VARIANTS VAL-20 AND SER-489;

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.