Variant position: 789 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1001 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 VGEVVCIFLTAALGLPEALI PVQLLWVNLVTDGLPATALGF
Mouse VGEVVCIFLTAALGLPEALI PVQLLWVNLVTDGLPATALGF
Rat VGEVVCIFLTAALGLPEALI PVQLLWVNLVTDGLPATALGF
Bovine VGEVVCIFLTAALGLPEALI PVQLLWVNLVTDGLPATALGF
Rabbit VGEVVCIFLTAALGLPEALI PVQLLWVNLVTDGLPATALGF
Chicken VGEVVCIFLTAALGLPEALI PVQLLWVNLVTDGLPATALGF
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.
The mutation of Pro(789) to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca(2+) ATPase (SERCA1) and is associated with Brody disease.
Odermatt A.; Barton K.; Khanna V.K.; Mathieu J.; Escolar D.; Kuntzer T.; Karpati G.; MacLennan D.H.;
Hum. Genet. 106:482-491(2000)
Cited for: VARIANT BRM LEU-789; FUNCTION;
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