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UniProtKB/Swiss-Prot Q99959: Variant p.Ser70Ile

Gene: PKP2
Variant information

Variant position:  70
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 Serine (S) to Isoleucine (I) at position 70 (S70I, p.Ser70Ile).
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 medium size and hydrophobic (I)
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.

Sequence information

Variant position:  70
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  881
The length of the canonical 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.

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.

Chain 1 – 881 Plakophilin-2

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 ARVD9 SER-424 AND PHE-787; VARIANTS ASN-26; ILE-70; PHE-140; VAL-195; SER-276; PRO-366; PRO-372; MET-526; SER-531 AND ILE-587;

Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients -- disease-causing or innocent bystanders?
Christensen A.H.; Benn M.; Tybjaerg-Hansen A.; Haunso S.; Svendsen J.H.;
Cardiology 115:148-154(2010)
Cited for: VARIANTS ARVD9 LYS-62; 79-ARG--ASP-881 DEL; ARG-489 AND VAL-673; VARIANTS ASN-26; ASP-58; ILE-70; PHE-140; ALA-338; PRO-366; SER-531 AND ILE-587;

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 ARVD9 LYS-137; GLY-169 AND CYS-631; VARIANTS ILE-70; PRO-366 AND ILE-587;

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.