UniProtKB/Swiss-Prot O95389: Variant p.Gln56His

Cellular communication network factor 6
Gene: CCN6
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Variant information Variant position:

56 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 Glutamine (Q) to Histidine (H) at position 56 (Q56H, p.Gln56His). 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 medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs1230345 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GEVSDAPQRKQFCHWPCKCP Q QKPRCPPGVSLVRDGCGCCK 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                         GEVSDAPQRKQFCHWPCKCPQQKPRCPPGVSLVRDGCGCCK

Mouse                         GAALEVYQRTEVCRWPCRCPPQRPTCPPGVSLVRDGCGCCK

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	24 – 354	Cellular communication network factor 6
Domain	44 – 117	IGFBP N-terminal
Disulfide bond	48 – 72
Disulfide bond	52 – 74
Disulfide bond	54 – 75

Literature citations
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Hurvitz J.R.; Suwairi W.M.; Van Hul W.; El-Shanti H.; Superti-Furga A.; Roudier J.; Holderbaum D.; Pauli R.M.; Herd J.K.; Van Hul E.V.; Rezai-Delui H.; Legius E.; Le Merrer M.; Al-Alami J.; Bahabri S.A.; Warman M.L.;
Nat. Genet. 23:94-98(1999)
Cited for: INVOLVEMENT IN PPRD; VARIANTS PPRD ARG-78 AND TYR-145; VARIANT HIS-56; TISSUE SPECIFICITY; FUNCTION; Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.
Delague V.; Chouery E.; Corbani S.; Ghanem I.; Aamar S.; Fischer J.; Levy-Lahad E.; Urtizberea J.A.; Megarbane A.;
Am. J. Med. Genet. A 138A:118-126(2005)
Cited for: VARIANTS PPRD 52-CYS--LEU-354 DEL AND ARG-78; VARIANTS HIS-56 AND GLU-83;

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.