Variant position: 287 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 291 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 CPDGKLYLSVAGVSTTCQEH NHICL
Mouse CPDGKLYLSMAGEVTTCEEH SHVCL
Bovine CPDGKLYLSVAGMGTTCHEH SHLCL
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 – 291 Gamma-sarcoglycan
59 – 291 Extracellular
265 – 290
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
Noguchi S.; McNally E.M.; Othmane K.B.; Hagiwara Y.; Mizuno Y.; Yoshida M.; Yamamoto H.; Boennemann C.G.; Gussoni E.; Denton P.H.; Kyriakides T.; Middleton L.; Hentati F.; Hamida M.B.; Nonaka I.; Vance J.M.; Kunkel L.M.; Ozawa E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; DISEASE; VARIANT SER-287;
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
McNally E.M.; Passos-Bueno M.R.; Boennemann C.G.; Vainzof M.; de Sa Moreira E.; Lidov H.G.W.; Othmane K.B.; Denton P.H.; Vance J.M.; Zatz M.; Kunkel L.M.;
Am. J. Hum. Genet. 59:1040-1047(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; DISEASE; VARIANTS HIS-116 AND SER-287;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT SER-287;
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