Variant position: 1532 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4391 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 EVAQPGPSNRPRALEVEECR CPPGYIGLSCQDCAPGYTRTG
Mouse EGAQPGPSSGPRALEVEECR CPPGYVGLSCQDCAPGYTRTG
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
22 – 4391 Basement membrane-specific heparan sulfate proteoglycan core protein
1530 – 1562 Laminin EGF-like 9; second part
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Nicole S.; Davoine C.-S.; Topaloglu H.; Cattolico L.; Barral D.; Beighton P.; Ben-Hamida C.; Hammouda H.; Cruaud C.; White P.S.; Samson D.; Urtizberea J.A.; Lehmann-Horn F.; Weissenbach J.; Hentati F.; Fontaine B.;
Nat. Genet. 26:480-483(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 22-4391; VARIANTS VAL-638 AND SJS1 TYR-1532; VARIANTS SER-765 AND VAL-1503;
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.