Variant position: 750 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 SEMVLADDNFSTIVAAVEEG RAIYNNMKQFIRYLISSNVGE
Mouse SEMVLADDNFSTIVAAVEEG RAIYNNMKQFIRYLISSNVGE
Rat SEMVLADDNFSTIVAAVEEG RAIYNNMKQFIRYLISSNVGE
Pig SEMVLADDNFSTIVAAVEEG RAIYNNMKQFIRYLISSNVGE
Rabbit SEMVLADDNFSTIVAAVEEG RAIYNNMKQFIRYLISSNVGE
Cat SEMVLADDNFSTIVAAVEEG RAIYNNMKQFIRYLISSNVGE
Chicken SEMVLADDNFSTIVAAVEEG RAIYNNMKQFIRYLISSNVGE
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.
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 associated with Darier disease and Hailey-Hailey disease.
Nellen R.G.; Steijlen P.M.; van Steensel M.A.; Vreeburg M.; Frank J.; van Geel M.;
Hum. Mutat. 38:343-356(2017)
Cited for: VARIANTS DD 74-VAL--GLN-108 DEL; SER-101; GLN-131; 194-VAL--PRO-197 DEL; PRO-590; ALA-625; GLU-626; 666-ARG--SER-1042 DEL; PRO-672; PRO-691; TRP-750; TRP-765; GLY-849 INS; PRO-900 AND ARG-943;
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.