UniProtKB/Swiss-Prot Q93063: Variant p.Glu576Lys

Exostosin-2
Gene: EXT2
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Variant information Variant position:

576 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 Glutamate (E) to Lysine (K) at position 576 (E576K, p.Glu576Lys). 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 acidic (E) to large size and basic (K) 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
Variant description:

In osteochondroma. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs373582542 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

WREFPDRLVGYPGRLHLWDH E MNKWKYESEWTNEVSMVLTG 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                         WREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTG

Mouse                         WREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTG

Bovine                        WREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTG

Caenorhabditis elegans        WRENRDRIVGFPARHHARYGDSM--FYNSNHTCQMSMILTG

Drosophila                    WREFPDHIVGFPSRIHVWENVTMRWHYESEWTNQISMVLTG

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	1 – 718	Exostosin-2
Topological domain	47 – 718	Lumenal
Binding site	582 – 582
Binding site	584 – 584
Mutagenesis	569 – 569	R -> A. Increased N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. Loss of glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity.
Mutagenesis	585 – 585	E -> A. Decreased N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. Decreased glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity.
Turn	575 – 578

Literature citations
Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.
Gigante M.; Matera M.G.; Seripa D.; Izzo A.M.; Venanzi R.; Giannotti A.; Digilio M.C.; Gravina C.; Lazzari M.; Monteleone G.; Monteleone M.; Dallapiccola B.; Fazio V.M.;
Int. J. Cancer 95:378-383(2001)
Cited for: VARIANT EXT2 THR-380; VARIANT OSTEOCHONDROMA LYS-576;

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.