Variant position: 60 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 437 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 IFSKVHSDRNVYPSAGVLFV HVLEREYFKGEFPPYPKPGEI
Mouse LFSKVHSDRNVYPSAGVLFV HVLEREYFKGEFPPYPKPGEV
Rat LFSKVHSDRNVYPSAGVLFV HVLEREYFKGEFPPYPKPGEV
Bovine IFSKVHSDRNVYPSAGVLFV HVLEREYFKGEFPPYPKPGEI
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 – 437 Epsilon-sarcoglycan
1 – 317 Extracellular
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
Hedrich K.; Meyer E.M.; Schule B.; Kock N.; de Carvalho Aguiar P.; Wiegers K.; Koelman J.H.; Garrels J.; Durr R.; Liu L.; Schwinger E.; Ozelius L.J.; Landwehrmeyer B.; Stoessl A.J.; Tijssen M.A.; Klein C.;
Cited for: VARIANT DYT11 PRO-60;
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse epsilon-sarcoglycan in the late secretory pathway.
Waite A.; De Rosa M.C.; Brancaccio A.; Blake D.J.;
Hum. Mutat. 32:1246-1258(2011)
Cited for: CHARACTERIZATION OF VARIANTS DYT11 ARG-60; PRO-60; THR-92; CYS-115; ARG-270 AND TYR-271;
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