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:
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 NGGQETIEMVKGGHQTSESC RGAG-HHHTLDSCRGGHTEVDN
Mouse SGGQETIEMVKGGQQTLDSR RGAGYHHHTLDPCRGGHVEVD
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.
Type Positions Description
136 – 901 Desmocollin-2
716 – 901 Cytoplasmic
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;
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