Variant position: 40 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 EKNLKEDGISAAKDVKLLLL GAGESGKSTIVKQMKIIHEDG
Mouse EKNLKEDGISAAKDVKLLLL GAGESGKSTIVKQMKIIHEDG
Rat EKNLKEDGISAAKDVKLLLL GAGESGKSTIVKQMKIIHEDG
Bovine EKNLKEDGISAAKDVKLLLL GAGESGKSTIVKQMKIIHEDG
Xenopus laevis EKNLKEDGVTAAKDVKLLLL GAGESGKSTIVKQMKIIHEDG
Caenorhabditis elegans EKNLKEDGMQAAKDIKLLLL GAGESGKSTIVKQMKIIHESG
Drosophila ERNLKEDGIQAAKDIKLLLL GAGESGKSTIVKQMKIIHESG
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
40 – 47 GTP
35 – 48 G1 motif
47 – 47 Magnesium
34 – 40
Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.
Law C.Y.; Chang S.T.; Cho S.Y.; Yau E.K.; Ng G.S.; Fong N.C.; Lam C.W.;
Clin. Chim. Acta 451:292-296(2015)
Cited for: VARIANT EIEE17 ARG-40;
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;
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.