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UniProtKB/Swiss-Prot Q93063: Variant p.Asp227Asn

Exostosin-2
Gene: EXT2
Variant information

Variant position:  227
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Aspartate (D) to Asparagine (N) at position 227 (D227N, p.Asp227Asn).
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 (D) to medium size and polar (N)
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 EXT2; no effect on oligomeric complex formation with EXT1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  227
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:   RDRALLAGGGFSTWTYRQGY  D VSIPVYSPLSAEVDLPEKGP
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                         RDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGP

Mouse                         RDRALLAGGGFSTWTYRQGYDVSIPVFSPLSAEMALPEKAP

Bovine                        RDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGP

Caenorhabditis elegans        SKSIHVQASKIRS------FDFPVDVNHIAVEKVDLTPLLP

Drosophila                    TDNAIIFGGGFDSWSYRPGFDVAIPVWSPRL--VRQHAHAT

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.

TypePositionsDescription
Chain 1 – 718 Exostosin-2
Topological domain 47 – 718 Lumenal


Literature citations

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
Philippe C.; Porter D.E.; Emerton M.E.; Wells D.E.; Simpson A.H.R.W.; Monaco A.P.;
Am. J. Hum. Genet. 61:520-528(1997)
Cited for: VARIANT EXT2 ASN-227;

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.
Bernard M.A.; Hall C.E.; Hogue D.A.; Cole W.G.; Scott A.; Snuggs M.B.; Clines G.A.; Luedecke H.-J.; Lovett M.; Van Winkle W.B.; Hecht J.T.;
Cell Motil. Cytoskeleton 48:149-162(2001)
Cited for: VARIANT EXT2 ASN-227;

Genotype-phenotype correlation in hereditary multiple exostoses.
Francannet C.; Cohen-Tanugi A.; Le Merrer M.; Munnich A.; Bonaventure J.; Legeai-Mallet L.;
J. Med. Genet. 38:430-434(2001)
Cited for: VARIANTS EXT2 SER-179 AND ASN-227;

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
Heinritz W.; Hueffmeier U.; Strenge S.; Miterski B.; Zweier C.; Leinung S.; Bohring A.; Mitulla B.; Peters U.; Froster U.G.;
Ann. Hum. Genet. 73:283-291(2009)
Cited for: VARIANT EXT2 ASN-227;

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.