Sequence information
Variant position: 227 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:
SERKKWIHCFEDVTAIIFCV
A LSGYDQVLHEDETTNRMHES
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 SERKKWIHCFEDVTAIIFCVA LSGYDQVLHEDETTNRMHES
Mouse SERKKWIHCFEDVTAIIFCVA LSGYDQVLHEDETTNRMHES
Rat SERKKWIHCFEDVTAIIFCVA LSGYDQVLHEDETTNRMHES
Bovine SERKKWIHCFEDVTAIIFCVA LSGYDQVLHEDETTNRMHES
Xenopus laevis SERKKWWHCFEDVTAIIFCVA LTGYDQVLHEDETTNRMHES
Caenorhabditis elegans SERKKWIHCFEDVTAIIFCVA MSEYDQVLHEDETTNRMHES
Drosophila SERKKWIHCFEDVTAIIFCVA MSEYDQVLHEDETTNRMQES
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
Beta strand
221 – 227
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;
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.