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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75899: Variant p.Ile705Asn

Gamma-aminobutyric acid type B receptor subunit 2
Gene: GABBR2
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Variant information Variant position: help 705 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Isoleucine (I) to Asparagine (N) at position 705 (I705N, p.Ile705Asn). 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: help Change from medium size and hydrophobic (I) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In DEE59; increased basal signaling activity and no stimulation by GABA agonist; when injected into Xenopus tadpoles, causes abnormal swimming patterns and increased frequencies of seizure-like behavior compared to wild-type-injected animals; no effect on cell surface expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 705 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 941 The length of the canonical sequence.
Location on the sequence: help ALNDSKYIGMSVYNVGIMCI I GAAVSFLTRDQPNVQFCIVA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQFCIVA

Mouse                         ALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQFCIVA

Rat                           ALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQFCIVA

Caenorhabditis elegans        ALNDSKYIGTSVYCCVVMSVLGLSTSVILQERVNEMFSLAS
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 42 – 941 Gamma-aminobutyric acid type B receptor subunit 2
Transmembrane 692 – 712 Helical; Name=6
Helix 690 – 712



Literature citations
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y.; Jung J.; Lee Y.N.; Lee Y.; Cho H.; Na E.; Hong J.; Kim E.; Lee J.S.; Lee J.S.; Hong C.; Park S.Y.; Wie J.; Miller K.; Shur N.; Clow C.; Ebel R.S.; DeBrosse S.D.; Henderson L.B.; Willaert R.; Castaldi C.; Tikhonova I.; Bilguevar K.; Mane S.; Kim K.J.; Hwang Y.S.; Lee S.G.; So I.; Lim B.C.; Choi H.J.; Seong J.Y.; Shin Y.B.; Jung H.; Chae J.H.; Choi M.;
Ann. Neurol. 82:466-478(2017)
Cited for: INVOLVEMENT IN NDPLHS; INVOLVEMENT IN DEE59; VARIANT NDPLHS THR-567; VARIANTS DEE59 ILE-695 AND ASN-705; CHARACTERIZATION OF VARIANT NDPLHS THR-567; CHARACTERIZATION OF VARIANTS DEE59 ILE-695 AND ASN-705; A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Vuillaume M.L.; Jeanne M.; Xue L.; Blesson S.; Denomme-Pichon A.S.; Alirol S.; Brulard C.; Colin E.; Isidor B.; Gilbert-Dussardier B.; Odent S.; Parent P.; Donnart A.; Redon R.; Bezieau S.; Rondard P.; Laumonnier F.; Toutain A.;
Ann. Neurol. 83:437-439(2018)
Cited for: INVOLVEMENT IN NDPLHS; VARIANT NDPLHS THR-707; CHARACTERIZATION OF VARIANTS NDPLHS THR-567 AND THR-707; CHARACTERIZATION OF VARIANTS DEE59 ILE-695 AND ASN-705;
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.