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UniProtKB/Swiss-Prot Q02487: Variant p.Arg798Gln

Desmocollin-2
Gene: DSC2
Chromosomal location: 18q12.1
Variant information

Variant position:  798
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 798 (R798Q, p.Arg798Gln).
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 large size and basic (R) to medium size and polar (Q)
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.



Sequence information

Variant position:  798
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  901
The length of the canonical sequence.

Location on the sequence:   NGGQETIEMVKGGHQTSESC  R GAGHHHTLDSCRGGHTEVDN
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                         NGGQETIEMVKGGHQTSESCRGAG-HHHTLDSCRGGHTEVDN

Mouse                         SGGQETIEMVKGGQQTLDSRRGAGYHHHTLDPCRGGHVEVD

Fission yeast                 ---QRAVELL-------------------------------

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 136 – 901 Desmocollin-2
Topological domain 716 – 901 Cytoplasmic


Literature citations

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
Posch M.G.; Posch M.J.; Geier C.; Erdmann B.; Mueller W.; Richter A.; Ruppert V.; Pankuweit S.; Maisch B.; Perrot A.; Buttgereit J.; Dietz R.; Haverkamp W.; Ozcelik C.;
Mol. Genet. Metab. 95:74-80(2008)
Cited for: VARIANTS ILE-358; VAL-776 AND GLN-798;

Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan A.D.; Tan B.Y.; Zikusoka M.N.; Llado L.I.; Jain R.; Daly A.; Tichnell C.; James C.; Amat-Alarcon N.; Abraham T.; Russell S.D.; Bluemke D.A.; Calkins H.; Dalal D.; Judge D.P.;
Circ. Cardiovasc. Genet. 2:428-435(2009)
Cited for: VARIANTS SER-11; VAL-596; HIS-638; VAL-776 AND GLN-798;

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Barahona-Dussault C.; Benito B.; Campuzano O.; Iglesias A.; Leung T.L.; Robb L.; Talajic M.; Brugada R.;
Clin. Genet. 77:37-48(2010)
Cited for: VARIANTS ARVD11 THR-231 AND ALA-340; VARIANT GLN-798;

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.