Variant position: 270 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 QEMEPVITCDKKFRTQFYID WCKISLVDKTKQVSTYQEVIR
Mouse QEMEPVITCDKKFRTHFHID WCKISLVDKTKQVSTYQEVVR
Rat QEMEPVITCDKKFRTQFYID WCKISLVDKTKQVSTYQEVVR
Bovine QEMEPVITCDKKFRTQFYID WCKISLVDKTKQVSTYQEVIR
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
235 – 341 Cys-rich
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
Ritz K.; Gerrits M.C.; Foncke E.M.; van Ruissen F.; van der Linden C.; Vergouwen M.D.; Bloem B.R.; Vandenberghe W.; Crols R.; Speelman J.D.; Baas F.; Tijssen M.A.;
J. Neurol. Neurosurg. Psych. 80:653-658(2009)
Cited for: VARIANTS DYT11 SER-175; CYS-177 AND ARG-270;
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;
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.