Sequence information
Variant position: 39 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:
NESTGLSLEQVKKLKERWGS
N ELPAEEGKTLLELVIEQFED
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 NESTGLSLEQVKKLKERWGSN ELPAEEGKTLLELVIEQFED
NESTGLSLEQVKKLKERWGSN ELPAEEGKTLLELVIEQFED
Mouse NESTGLSLEQVKKLKERWGSN ELPAEEGKTLLELVIEQFED
Rat NESTGLSLEQVKKLKERWGSN ELPAEEGKTLLELVIEQFED
Pig NESTGLSLEQVKKLKERWGSN ELPAEEGKTLLELVIEQFED
Rabbit NESTGLSLEQVKKLKERWGSN ELPAEEGKTLLELVIEQFED
Cat NESTGLSLEQVKKLKERWGSN ELPAEEGKTLLELVIEQFED
Chicken NESTGLSLEQVKKLKEKWGSN ELPAEEGKTLLELVIEQFED
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 – 1042
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2
Topological domain
1 – 48
Cytoplasmic
Modified residue
38 – 38
Phosphoserine
Literature citations
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.
Jacobsen N.J.O.; Lyons I.; Hoogendoorn B.; Burge S.; Kwok P.-Y.; O'Donovan M.C.; Craddock N.; Owen M.J.;
Hum. Mol. Genet. 8:1631-1636(1999)
Cited for: VARIANTS DD THR-39; ARG-560 AND LEU-765;
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.