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:
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 KYYLDSLDRIGAADYQPTEQ DILRTRVKTTGIVETHFTFKN
Mouse KYYLDSLDRIGAGDYQPTEQ DILRTRVKTTGIVETHFTFKN
Rat KYYLDSLDRIGAADYQPTEQ DILRTRVKTTGIVETHFTFKN
Bovine KYYLDSLDRIGAADYQPTEQ DILRTRVKTTGIVETHFTFKN
Xenopus laevis KYYLDSLDRIGAPDYQPTEQ DILRTRVKTTGIVETHFTFKN
Caenorhabditis elegans KYFLDDLERLGEAIYQPTEQ DILRTRVKTTGIVEVHFTFKN
Drosophila KYFLDDLDRLGAKDYQPTEQ DILRTRVKTTGIVEVHFSFKN
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
174 – 182 G2 motif
182 – 182 Magnesium
179 – 179 ADP-ribosylarginine; by cholera toxin
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;
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.