UniProtKB/Swiss-Prot P98160: Variant p.Asn765Ser

Basement membrane-specific heparan sulfate proteoglycan core protein
Gene: HSPG2
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Variant information Variant position:

765 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Asparagine (N) to Serine (S) at position 765 (N765S, p.Asn765Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs989994 [ dbSNP | Ensembl ]

Sequence information 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:

CDAHFTRVPGGPYLGTCSGC N CNGHASSCDPVYGHCLNCQH 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                         CDAHFTRVPGGPYLGTCSGCNCNGHASSCDPVYGHCLNCQH

Mouse                         CDAHFTRVPGGPYLGTCSGCNCNGHASSCDPVYGHCLNCQH

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
Chain	22 – 4391	Basement membrane-specific heparan sulfate proteoglycan core protein
Domain	764 – 813	Laminin EGF-like 2
Disulfide bond	764 – 773

Literature citations
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; SER-765 AND VAL-1503; VARIANT SJS1 TYR-1532;

Disclaimer: 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.