Sequence information
Variant position: 279 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:
FFIDTSIILFLNKKDLFGEK
I KKSPLTICFPEYTGPNTYED
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 FFIDTSIILFLNKKDLFGEKI KKSPLTICFPEYTGPNTYED
Mouse FFIDTSIILFLNKKDLFGEKI KKSPLTICFPEYPGSNTYED
Rat FFIDTSIILFLNKKDLFGEKI KKSPLTICFPEYPGSNTYED
Bovine FFIDTSIILFLNKKDLFGEKI KKSPLTICFPEYTGSNTYED
Xenopus laevis WFTDTSIILFLNKKDIFQEKI KSSPLTICFPEYTGPNSFTE
Caenorhabditis elegans WFTDTSIILFLNKKDLFEEKI KKSPLTICFPEYSGRQDYHE
Drosophila WFTDTSIILFLNKKDLFEEKI RKSPLTICFPEYTGGQEYGE
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
Alternative sequence
249 – 354
MLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY -> KLFDSICNNKWFTDTSIILFLNKKDIFEEKIKKSPLTICFPEYTGPSAFTEAVAYIQAQYESKNKSAHKEIYTHVTCATDTNNIQFVFDAVTDVIIAKNLRGCGLY. In isoform Alpha-2.
Helix
272 – 281
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;
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies.
Epi4K Consortium;
Am. J. Hum. Genet. 99:287-298(2016)
Cited for: VARIANT DEE17 ASN-279;
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.