Variant position: 246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 354 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 VALSGYDQVLHEDETTNRMH ESLMLFDSICNNKFFIDTSII
Mouse VALSGYDQVLHEDETTNRMH ESLMLFDSICNNKFFIDTSII
Rat VALSGYDQVLHEDETTNRMH ESLMLFDSICNNKFFIDTSII
Bovine VALSGYDQVLHEDETTNRMH ESLMLFDSICNNKFFIDTSII
Xenopus laevis VALTGYDQVLHEDETTNRMH ESLKLFDSICNNKWFTDTSII
Caenorhabditis elegans VAMSEYDQVLHEDETTNRMH ESLKLFDSICNNKWFTDTSII
Drosophila VAMSEYDQVLHEDETTNRMQ ESLKLFDSICNNKWFTDTSII
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
2 – 354 Guanine nucleotide-binding protein G(o) subunit alpha
32 – 354 G-alpha
244 – 255
Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder.
Ananth A.L.; Robichaux-Viehoever A.; Kim Y.M.; Hanson-Kahn A.; Cox R.; Enns G.M.; Strober J.; Willing M.; Schlaggar B.L.; Wu Y.W.; Bernstein J.A.;
Pediatr. Neurol. 59:81-84(2016)
Cited for: VARIANTS NEDIM GLY-209; HIS-209 AND LYS-246;
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H.; Fukai R.; Ben-Zeev B.; Sakai Y.; Mimaki M.; Okamoto N.; Suzuki Y.; Monden Y.; Saito H.; Tziperman B.; Torio M.; Akamine S.; Takahashi N.; Osaka H.; Yamagata T.; Nakamura K.; Tsurusaki Y.; Nakashima M.; Miyake N.; Shiina M.; Ogata K.; Matsumoto N.;
Eur. J. Hum. Genet. 24:129-134(2016)
Cited for: INVOLVEMENT IN NEDIM; VARIANTS NEDIM CYS-209; VAL-227 AND LYS-246; VARIANT DEE17 ARG-203;
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.