Sequence information
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:
EKNLKEDGISAAKDVKLLLL
G AGESGKSTIVKQMKIIHEDG
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 EKNLKEDGISAAKDVKLLLLG AGESGKSTIVKQMKIIHEDG
Mouse EKNLKEDGISAAKDVKLLLLG AGESGKSTIVKQMKIIHEDG
Rat EKNLKEDGISAAKDVKLLLLG AGESGKSTIVKQMKIIHEDG
Bovine EKNLKEDGISAAKDVKLLLLG AGESGKSTIVKQMKIIHEDG
Xenopus laevis EKNLKEDGVTAAKDVKLLLLG AGESGKSTIVKQMKIIHEDG
Caenorhabditis elegans EKNLKEDGMQAAKDIKLLLLG AGESGKSTIVKQMKIIHESG
Drosophila ERNLKEDGIQAAKDIKLLLLG AGESGKSTIVKQMKIIHESG
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
Nucleotide binding
40 – 47
GTP
Region
35 – 48
G1 motif
Metal binding
47 – 47
Magnesium
Beta strand
34 – 40
Literature citations
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 DEE17 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;
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.