Variant position: 749 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1042 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 ASEMVLADDNFSTIVAAVEE GRAIYNNMKQFIRYLISSNVG
Mouse ASEMVLADDNFSTIVAAVEE GRAIYNNMKQFIRYLISSNVG
Rat ASEMVLADDNFSTIVAAVEE GRAIYNNMKQFIRYLISSNVG
Pig ASEMVLADDNFSTIVAAVEE GRAIYNNMKQFIRYLISSNVG
Rabbit ASEMVLADDNFSTIVAAVEE GRAIYNNMKQFIRYLISSNVG
Cat ASEMVLADDNFSTIVAAVEE GRAIYNNMKQFIRYLISSNVG
Chicken ASEMVLADDNFSTIVAAVEE GRAIYNNMKQFIRYLISSNVG
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 – 1042 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2
314 – 756 Cytoplasmic
767 – 767 Calcium 2
740 – 780
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Sakuntabhai A.; Ruiz-Perez V.; Carter S.; Jacobsen N.; Burge S.; Monk S.; Smith M.; Munro C.S.; O'Donovan M.C.; Craddock N.; Kucherlapati R.; Rees J.L.; Owen M.J.; Lathrop G.M.; Monaco A.P.; Strachan T.; Hovnanian A.;
Nat. Genet. 21:271-277(1999)
Cited for: VARIANTS DD GLU-23; LYS-357; PHE-495 AND ARG-749;
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.