UniProtKB/Swiss-Prot Q9Y251: Variant p.Lys307Arg

Heparanase
Gene: HPSE
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Variant information Variant position:

307 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 Lysine (K) to Arginine (R) at position 307 (K307R, p.Lys307Arg). 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:

Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 rs11099592 [ dbSNP | Ensembl ]

Sequence information Variant position:

307 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

543 The length of the canonical sequence.
Location on the sequence:

GEVIDSVTWHHYYLNGRTAT K EDFLNPDVLDIFISSVQKVF 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                         GEVIDSVTWHHYYLNGRTATKEDFLNPDVLDIFISSVQKVF

Mouse                         GEVIDSLTWHHYYLNGRIATKEDFLSSDVLDTFILSVQKIL

Rat                           GEVIDSLTWHHYYLNGRVATKEDFLSSDVLDTFILSVQKIL

Bovine                        GEVIDSVTWHHYYVNGRIATKEDFLNPDILDTFISSVQKTL

Chicken                       GKAIDSVTWHHYYVNGRSATREDFLSPEVLDSFATAIHDVL

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	158 – 543	Heparanase 50 kDa subunit
Region	288 – 417	Required for heterodimerization with the heparanase 8 kDa subunit
Binding site	296 – 296
Binding site	303 – 303
Helix	307 – 310

Literature citations
Cloning and functional expression of a human heparanase gene.
Kussie P.H.; Hulmes J.D.; Ludwig D.L.; Patel S.; Navarro E.C.; Seddon A.P.; Giorgio N.A.; Bohlen P.;
Biochem. Biophys. Res. Commun. 261:183-187(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-307; TISSUE SPECIFICITY; Human heparanase. Purification, characterization, cloning, and expression.
Toyoshima M.; Nakajima M.;
J. Biol. Chem. 274:24153-24160(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); BIOPHYSICOCHEMICAL PROPERTIES; PROTEIN SEQUENCE OF 158-168; 326-337 AND 447-491; VARIANT ARG-307; Mammalian heparanase: gene cloning, expression and function in tumor progression and metastasis.
Vlodavsky I.; Friedmann Y.; Elkin M.; Aingorn H.; Atzmon R.; Ishai-Michaeli R.; Bitan M.; Pappo O.; Peretz T.; Michal I.; Spector L.; Pecker I.;
Nat. Med. 5:793-802(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); GLYCOSYLATION; PROTEOLYTIC PROCESSING; VARIANT ARG-307; Cloning of mammalian heparanase, an important enzyme in tumor invasion and metastasis.
Hulett M.D.; Freeman C.; Hamdorf B.J.; Baker R.T.; Harris M.J.; Parish C.R.;
Nat. Med. 5:803-809(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; PROTEIN SEQUENCE OF 158-174; 263-272; 326-337; 433-436; 438-443; 466-468 AND 478-483; VARIANT ARG-307; Heparanase expression in invasive trophoblasts and acute vascular damage.
Dempsey L.A.; Plummer T.B.; Coombes S.L.; Platt J.L.;
Glycobiology 10:467-475(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); BIOPHYSICOCHEMICAL PROPERTIES; TISSUE SPECIFICITY; VARIANT ARG-307; Cloning, expression, and characterization of an alternatively spliced variant of human heparanase.
Nasser N.J.; Avivi A.; Shushy M.; Vlodavsky I.; Nevo E.;
Biochem. Biophys. Res. Commun. 354:33-38(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); ALTERNATIVE SPLICING; VARIANT ARG-307; Cloned heparanase from MCF-7 cells.
Pinhal M.A.; Semedo P.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-307; Two new transcript variants of Homo sapiens heparanase (HPSE).
Jin S.; Yu L.; Gong F.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4); VARIANT ARG-307; Submission
Suzuki Y.; Sugano S.; Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ARG-307; 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] (ISOFORM 1); VARIANT ARG-307;

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.