Variant position: 299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2871 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 TSREIMWINDCEEEELLYDW SDKNTNIAQKQEAFSIRMSQL
Mouse TSREIMWINDCEEEELLYDW SDKNTNIAQKQEAFSIRMSQL
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
1 – 2871 Desmoplakin
272 – 375 Spectrin 2
1 – 1056 Globular 1
1 – 584 Interaction with plakophilin 1 and junction plakoglobin
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
Rampazzo A.; Nava A.; Malacrida S.; Beffagna G.; Bauce B.; Rossi V.; Zimbello R.; Simionati B.; Basso C.; Thiene G.; Towbin J.A.; Danieli G.A.;
Am. J. Hum. Genet. 71:1200-1206(2002)
Cited for: VARIANT ARVD8 ARG-299;
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.
Bauce B.; Basso C.; Rampazzo A.; Beffagna G.; Daliento L.; Frigo G.; Malacrida S.; Settimo L.; Danieli G.; Thiene G.; Nava A.;
Eur. Heart J. 26:1666-1675(2005)
Cited for: VARIANTS ARVD8 ARG-299; LYS-1255 AND ILE-1775;
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 ARVD8 ARG-299; LYS-1255 AND ILE-1775; VARIANTS PHE-305; VAL-1505; CYS-1512; LYS-1526; CYS-1537 AND GLN-1738;
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.