Variant position: 765 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 CDAHFTRVPGGPYLGTCSGC NCNGHASSCDPVYGHCLNCQH
Mouse CDAHFTRVPGGPYLGTCSGC NCNGHASSCDPVYGHCLNCQH
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
764 – 813 Laminin EGF-like 2
764 – 773
Primary structure of the human heparan sulfate proteoglycan from basement membrane (HSPG2/perlecan). A chimeric molecule with multiple domains homologous to the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor.
Murdoch A.D.; Dodge G.R.; Cohen I.; Tuan R.S.; Iozzo R.V.;
J. Biol. Chem. 267:8544-8557(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-638; SER-765 AND VAL-1503;
Human basement membrane heparan sulfate proteoglycan core protein: a 467-kD protein containing multiple domains resembling elements of the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor.
Kallunki P.; Tryggvason K.;
J. Cell Biol. 116:559-571(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-638; SER-765; VAL-1503; HIS-2980; GLY-2995; THR-3168 AND GLN-3632;
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.