UniProtKB/Swiss-Prot P15924: Variant p.Ser299Arg

Desmoplakin
Gene: DSP
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Variant information Variant position:

299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Serine (S) to Arginine (R) at position 299 (S299R, p.Ser299Arg). 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 small size and polar (S) to large size and basic (R) 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
Variant description:

In ARVD8; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121912992 [ dbSNP | Ensembl ]

Sequence information 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:

TSREIMWINDCEEEELLYDW S DKNTNIAQKQEAFSIRMSQL 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                         TSREIMWINDCEEEELLYDWSDKNTNIAQKQEAFSIRMSQL

Mouse                         TSREIMWINDCEEEELLYDWSDKNTNIAQKQEAFSIRMSQL

Rat                           TSREIMWINDCEEEELLYDWSDKNTNIAQKQEAFSIRMSQL

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
Repeat	272 – 375	Spectrin 2
Region	1 – 1056	Globular 1
Region	1 – 584	Interaction with PKP1, JUP, PKP2

Literature citations
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;

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.