Sequence information
Variant position: 174 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:
KYYLDSLDRIGAADYQPTEQ
D ILRTRVKTTGIVETHFTFKN
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 KYYLDSLDRIGAADYQPTEQD ILRTRVKTTGIVETHFTFKN
Mouse KYYLDSLDRIGAGDYQPTEQD ILRTRVKTTGIVETHFTFKN
Rat KYYLDSLDRIGAADYQPTEQD ILRTRVKTTGIVETHFTFKN
Bovine KYYLDSLDRIGAADYQPTEQD ILRTRVKTTGIVETHFTFKN
Xenopus laevis KYYLDSLDRIGAPDYQPTEQD ILRTRVKTTGIVETHFTFKN
Caenorhabditis elegans KYFLDDLERLGEAIYQPTEQD ILRTRVKTTGIVEVHFTFKN
Drosophila KYFLDDLDRLGAKDYQPTEQD ILRTRVKTTGIVEVHFSFKN
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
Region
174 – 182
G2 motif
Metal binding
182 – 182
Magnesium
Modified residue
179 – 179
ADP-ribosylarginine; by cholera toxin
Literature citations
De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Nakamura K.; Kodera H.; Akita T.; Shiina M.; Kato M.; Hoshino H.; Terashima H.; Osaka H.; Nakamura S.; Tohyama J.; Kumada T.; Furukawa T.; Iwata S.; Shiihara T.; Kubota M.; Miyatake S.; Koshimizu E.; Nishiyama K.; Nakashima M.; Tsurusaki Y.; Miyake N.; Hayasaka K.; Ogata K.; Fukuda A.; Matsumoto N.; Saitsu H.;
Am. J. Hum. Genet. 93:496-505(2013)
Cited for: VARIANTS DEE17 GLY-174; 191-THR--PHE-197 DEL; ARG-203 AND ASN-279; CHARACTERIZATION OF VARIANTS DEE17 GLY-174; 191-THR--PHE-197 DEL; ARG-203 AND ASN-279; INVOLVEMENT IN DEE17;
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.