Sequence information
Variant position: 191 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2005 The length of the canonical sequence.
Location on the sequence:
LIKILARGFCLEDFTFLRDP
W NWLDFTVITFAYVTEFVDLG
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 LIKILARGFCLEDFTFLRDPW NWLDFTVITFAYVTEFVDLG
Mouse LIKILARGFCLEDFTFLRDPW NWLDFTVITFAYVTEFVNLG
Rat LIKILARGFCLEDFTFLRNPW NWLDFTVITFAYVTEFVNLG
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
1 – 2005
Sodium channel protein type 2 subunit alpha
Transmembrane
191 – 208
Helical; Name=S3 of repeat I
Repeat
111 – 456
I
Alternative sequence
209 – 209
D -> N. In isoform 2.
Helix
190 – 202
Literature citations
SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.
Su D.J.; Lu J.F.; Lin L.J.; Liang J.S.; Hung K.L.;
Brain Dev. 40:724-727(2018)
Cited for: VARIANT DEE11 CYS-191;
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.