Variant position: 707 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 941 The length of the canonical sequence.
Location on the sequence:
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 NDSKYIGMSVYNVGIMCIIG AAVSFLTRDQPNVQFCIVALV
Mouse NDSKYIGMSVYNVGIMCIIG AAVSFLTRDQPNVQFCIVALV
Rat NDSKYIGMSVYNVGIMCIIG AAVSFLTRDQPNVQFCIVALV
Caenorhabditis elegans NDSKYIGTSVYCCVVMSVLG LSTSVILQERVNEMFSLASFF
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
42 – 941 Gamma-aminobutyric acid type B receptor subunit 2
692 – 712 Helical; Name=6
690 – 712
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;
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.