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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15924: Variant p.Asn1526Lys

Desmoplakin
Gene: DSP
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Variant information Variant position: help 1526 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Asparagine (N) to Lysine (K) at position 1526 (N1526K, p.Asn1526Lys). 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: help Change from medium size and polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 1526 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2871 The length of the canonical sequence.
Location on the sequence: help RLQRVQYDLQKANSSATETI N KLKVQEQELTRLRIDYERVS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RLQRVQYDLQKANSSATETINKLKVQEQELTRLRIDYERVS

Mouse                         KLQRVQYDLQKANNSATEAMSKLKVQEQELTRLRIDYERVS

Rat                           KLQRVQYDLQKANNSATEAMSKLKVQEQELTRLRIDYERVS

Sequence annotation in neighborhood: help 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 – 2871 Desmoplakin
Region 1057 – 1945 Central fibrous rod domain
Coiled coil 1018 – 1945
Alternative sequence 1195 – 1793 Missing. In isoform DPII.
Alternative sequence 1351 – 1793 Missing. In isoform DSPIa.



Literature citations
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; 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 PHE-305; CYS-1512; LYS-1526; CYS-1537; CYS-1537; GLN-1738 AND VAL-1833;
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.