Variant position: 278 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 563 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 ARVVG-----QQGRGRAGIEASLDV QYLMSAGANISTW-----VYSSPGRH
Chimpanzee ARVVG-----QQGRGRAGIEASLDV QYLMSAGANISTW---
Mouse AKVVG-----KQGRGRAGIEASLDV EYLMSAGANISTW---
Rat ARVVG-----KQGRGRAGIEASLDV EYLMSAGANISTW---
Bovine ARVVG-----QQGRGRAGIEASLDV EYLMSAGANISTW---
Zebrafish ERVVG-----TQGGGKAGIEASLDV EYIMSSGANISTW---
Slime mold DNIIG-----PNQNLNPGIETALDI QYIMAMAPDVPTW---
Baker's yeast ----------NDERGET-------- -------LSHRLW---
Fission yeast SSIKKLVQAINQEFGTDDYTPVHHV EEQLEPADYFALLTRA
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.
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke J.R.; Riesch E.; Scheurenbrand T.; Schubach M.; Wilhelm C.; Steiner I.; Hansen J.; Courage C.; Gallati S.; Buerki S.; Strozzi S.; Simonetti B.G.; Grunt S.; Steinlin M.; Alber M.; Wolff M.; Klopstock T.; Prott E.C.; Lorenz R.; Spaich C.; Rona S.; Lakshminarasimhan M.; Kroell J.; Dorn T.; Kraemer G.; Synofzik M.; Becker F.; Weber Y.G.; Lerche H.; Boehm D.; Biskup S.;
Cited for: VARIANTS CLN2 ARG-278 AND HIS-422;
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