Sequence information
Variant position: 209 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:
HFTFKNLHFRLFDVGGQRSE
R KKWIHCFEDVTAIIFCVALS
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 HFTFKNLHFRLFDVGGQRSER KKWIHCFEDVTAIIFCVALS
Mouse HFTFKNLHFRLFDVGGQRSER KKWIHCFEDVTAIIFCVALS
Rat HFTFKNLHFRLFDVGGQRSER KKWIHCFEDVTAIIFCVALS
Bovine HFTFKNLHFRLFDVGGQRSER KKWIHCFEDVTAIIFCVALS
Xenopus laevis HFTFKNLHFRLFDVGGQRSER KKWWHCFEDVTAIIFCVALT
Caenorhabditis elegans HFTFKNLNFKLFDVGGQRSER KKWIHCFEDVTAIIFCVAMS
Drosophila HFSFKNLNFKLFDVGGQRSER KKWIHCFEDVTAIIFCVAMS
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
2 – 354
Guanine nucleotide-binding protein G(o) subunit alpha
Domain
32 – 354
G-alpha
Modified residue
205 – 205
5-glutamyl histamine
Turn
207 – 212
Literature citations
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;
Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
Parrini E.; Marini C.; Mei D.; Galuppi A.; Cellini E.; Pucatti D.; Chiti L.; Rutigliano D.; Bianchini C.; Virdo S.; De Vita D.; Bigoni S.; Barba C.; Mari F.; Montomoli M.; Pisano T.; Rosati A.; Guerrini R.;
Hum. Mutat. 38:216-225(2017)
Cited for: VARIANT DEE17 CYS-209;
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti F.R.; Galosi S.; Romani M.; Montomoli M.; Carss K.J.; Raymond F.L.; Parrini E.; Bianchini C.; McShane T.; Dale R.C.; Mohammad S.S.; Shah U.; Mahant N.; Ng J.; McTague A.; Samanta R.; Vadlamani G.; Valente E.M.; Leuzzi V.; Kurian M.A.; Guerrini R.;
Neurol. Genet. 3:E143-E143(2017)
Cited for: VARIANTS NEDIM ARG-40; GLY-47; THR-56; CYS-209 AND GLY-246;
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.