Variant position: 173 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 PASRFLSALGGLWEPGELQL LNVTSALDRGGRVPLPIEGRK
Mouse PANRFLTALGGLWEPGELQL LNITSALDRGGRVPLPIEGRK
Rabbit PASHFLTALAGLWEPGELKL LNITSALDRGGRVPLPIGGQK
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
174 – 174 N-linked (GlcNAc...) asparagine
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;
Mutations in the sarcoglycan genes in patients with myopathy.
Duggan D.J.; Gorospe J.R.; Fanin M.; Hoffman E.P.; Angelini C.;
N. Engl. J. Med. 336:618-624(1997)
Cited for: VARIANTS LGMD2D CYS-77; VAL-93; GLY-97; THR-124; PHE-158; PRO-173; ILE-196 AND HIS-205;
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.