Variant position: 177 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2009 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 VEYTFTGIYTFESLIKIIAR GFCLEDFTFLRDPWNWLDFTV
Mouse VEYTFTGIYTFESLIKIIAR GFCLEDFTFLRDPWNWLDFTV
Rat VEYTFTGIYTFESLIKIIAR GFCLEDFTFLRDPWNWLDFTV
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
1 – 2009 Sodium channel protein type 1 subunit alpha
176 – 189 Cytoplasmic
110 – 454 I
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
Nabbout R.; Gennaro E.; Dalla Bernardina B.; Dulac O.; Madia F.; Bertini E.; Capovilla G.; Chiron C.; Cristofori G.; Elia M.; Fontana E.; Gaggero R.; Granata T.; Guerrini R.; Loi M.; La Selva L.; Lispi M.L.; Matricardi A.; Romeo A.; Tzolas V.; Valseriati D.; Veggiotti P.; Vigevano F.; Vallee L.; Dagna Bricarelli F.; Bianchi A.; Zara F.;
Cited for: VARIANTS EIEE6 ASP-78; GLU-177; SER-227; ARG-280; ILE-297; ASN-426; ARG-1233; ILE-1461; SER-1463; ALA-1668; THR-1780 AND 1812-TRP--LYS-1815 DELINS CYS;
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
Ohmori I.; Kahlig K.M.; Rhodes T.H.; Wang D.W.; George A.L. Jr.;
Cited for: CHARACTERIZATION OF VARIANTS EIEE6 GLU-177; SER-227; HIS-393; ASN-426; GLN-939; ARG-959; PHE-1289 DEL AND ILE-1909;
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.