Variant position: 1107 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 EEEIDHAERELRRGQILWFR GLNRIQTQ--------------------------------------IRVVKAFRSSLYE
Rat EEEIDHAERELRRGQILWFR GLNRIQTQMEVVSTFKRSGSF
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
1057 – 1220 Cytoplasmic
1097 – 1114 Calmodulin-binding subdomain A
1113 – 1113 Phosphothreonine; by PKC
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
Zanni G.; Cali T.; Kalscheuer V.M.; Ottolini D.; Barresi S.; Lebrun N.; Montecchi-Palazzi L.; Hu H.; Chelly J.; Bertini E.; Brini M.; Carafoli E.;
Proc. Natl. Acad. Sci. U.S.A. 109:14514-14519(2012)
Cited for: INVOLVEMENT IN SCAX1; VARIANT SCAX1 ASP-1107; CHARACTERIZATION OF VARIANT SCAX1 ASP-1107; FUNCTION; CATALYTIC ACTIVITY;
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.