Variant position: 112 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 456 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 FFRQSWKDERLKFKGPMTVL RLNNLMASKIWTPDTFFHNGK
Mouse FFRQSWKDERLKFKGPMTVL RLNNLMASKIWTPDTFFHNGK
Rat FFRQSWKDERLKFKGPMTVL RLNNLMASKIWTPDTFFHNGK
Bovine FFRQSWKDERLKFKGPMTVL RLNNLMASKIWTPDTFFHNGK
Chicken FFRQSWKDERLKFKGPMTVL RLNNLMASKIWTPDTFFHNGK
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
28 – 456 Gamma-aminobutyric acid receptor subunit alpha-1
28 – 251 Extracellular
109 – 113
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill G.L.; Weckhuysen S.; McMahon J.M.; Hartmann C.; Moller R.S.; Hjalgrim H.; Cook J.; Geraghty E.; O'Roak B.J.; Petrou S.; Clarke A.; Gill D.; Sadleir L.G.; Muhle H.; von Spiczak S.; Nikanorova M.; Hodgson B.L.; Gazina E.V.; Suls A.; Shendure J.; Dibbens L.M.; De Jonghe P.; Helbig I.; Berkovic S.F.; Scheffer I.E.; Mefford H.C.;
Cited for: INVOLVEMENT IN DEE19; VARIANTS DEE19 GLN-112; SER-251 AND THR-306;
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.