Variant position: 108 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 318 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 AVIRIGPNGCDSMEFHESGL LRFKQVSDMGVIHPLYKSTVG
Mouse AVIRIGPNGCDSMEFHESGL LRFKQVSDMGVIHPLYKSTVG
Bovine AVIRIGPNGCDSMEFHESGL LRFKQVSDMGVIHPLYKSTVG
Rabbit AVIRIGPNGCDSMEFHESGL LRFKQVSDMGVIHPLYKSTVG
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 – 318 Beta-sarcoglycan
87 – 318 Extracellular
97 – 314 Cys-rich
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
Bonnemann C.G.; Passos-Bueno M.R.; McNally E.M.; Vainzof M.; de Sa Moreira E.; Marie S.K.; Pavanello R.C.; Noguchi S.; Ozawa E.; Zatz M.; Kunkel L.M.;
Hum. Mol. Genet. 5:1953-1961(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS LGMD2E PRO-91; LYS-100 AND ARG-108;
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.