Variant position: 482 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1220 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 ETMGNATAICSDKTGTLTTN RMTVVQSYLGDTHYKEIPAPS
Rat ETMGNATAICSDKTGTLTTN RMTVVQSYLGDTHYKEIPAPS
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 – 1220 Plasma membrane calcium-transporting ATPase 3
436 – 849 Cytoplasmic
473 – 473 4-aspartylphosphate intermediate
473 – 473 D -> A. Impaired ATPase activity.
A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1alpha Mutations.
Cali T.; Lopreiato R.; Shimony J.; Vineyard M.; Frizzarin M.; Zanni G.; Zanotti G.; Brini M.; Shinawi M.; Carafoli E.;
J. Biol. Chem. 290:16132-16141(2015)
Cited for: INVOLVEMENT IN SCAX1; CHARACTERIZATION OF VARIANT SCAX1 HIS-482; FUNCTION; CATALYTIC ACTIVITY; MUTAGENESIS OF ASP-473; SUBCELLULAR LOCATION;
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.