UniProtKB/Swiss-Prot P15924: Variant p.Glu1833Val

Desmoplakin
Gene: DSP
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Variant information Variant position:

1833 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 Glutamate (E) to Valine (V) at position 1833 (E1833V, p.Glu1833Val). 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 medium size and acidic (E) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs78652302 [ dbSNP | Ensembl ]

Sequence information Variant position:

1833 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:

ESLLVKIKVLEQDKARLQRL E DELNRAKSTLEAETRVKQRL 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                         ESLLVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVKQRL

Mouse                         ESLLVKIKVLEQDKARLQRLEDELNRAKATLEAESRVKQRL

Rat                           ESLLVKIKVLEQDKARLQRLEDELNRAKATLEAETRVKQRL

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	1 – 2871	Desmoplakin
Region	1057 – 1945	Central fibrous rod domain
Coiled coil	1018 – 1945

Literature citations
Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
Gehmlich K.; Syrris P.; Peskett E.; Evans A.; Ehler E.; Asimaki A.; Anastasakis A.; Tsatsopoulou A.; Vouliotis A.I.; Stefanadis C.; Saffitz J.E.; Protonotarios N.; McKenna W.J.;
Cardiovasc. Res. 90:77-87(2011)
Cited for: INTERACTION WITH DSC2; VARIANT VAL-1833; 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.