Variant position: 284 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 387 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 PGDGILEHDPFFCPPTEAPD RDFLVDALVTLLVPLLVALLL
Mouse PGDGILEHDPFFCPPTEATD RDFLTDALVTLLVPLLVALLL
Rabbit PGDGILEHDPFFCPPTEATA RDFLADALVTLLVPLLVALLL
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
24 – 387 Alpha-sarcoglycan
24 – 290 Extracellular
196 – 319 Missing. In isoform SGCA-2.
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Carrie A.; Piccolo F.; Leturcq F.; de Toma C.; Azibi K.; Beldjord C.; Vallat J.-M.; Merlini L.; Voit T.; Sewry C.; Urtizberea J.A.; Romero N.B.; Tome F.M.S.; Fardeau M.; Sunada Y.; Campbell K.P.; Kaplan J.-C.; Jeanpierre M.;
J. Med. Genet. 34:470-475(1997)
Cited for: VARIANTS LGMD2D LEU-30; CYS-34; CYS-77; ARG-91; THR-124; LYS-137; PRO-173 AND CYS-284;
Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.
Angelini C.; Fanin M.; Menegazzo E.; Freda M.P.; Duggan D.J.; Hoffman E.P.;
Muscle Nerve 21:769-775(1998)
Cited for: VARIANT LGMD2D CYS-284;
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