Home  |  Contact

UniProtKB/Swiss-Prot P17661: Variant p.Ser13Phe

Gene: DES
Variant information

Variant position:  13
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Phenylalanine (F) at position 13 (S13F, p.Ser13Phe).
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 aromatic (F)
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

Variant description:  In MFM1; some patients manifest a severe cardiac phenotype with right ventricular predominance.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  13
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  470
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.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.






Chicken                       MSQSYSSSQRVSSYRRTFGGG---------TSP

Xenopus laevis                MSQSYSSNQRASSYRRTFGGG----------SP

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.

Initiator methionine 1 – 1 Removed
Chain 2 – 470 Desmin
Region 2 – 108 Head
Modified residue 7 – 7 Phosphoserine; by CDK1
Modified residue 12 – 12 Phosphoserine; by AURKB
Modified residue 16 – 16 Omega-N-methylarginine
Modified residue 17 – 17 Phosphothreonine; by AURKB and ROCK1
Modified residue 28 – 28 Phosphoserine; by CDK1
Modified residue 31 – 31 Phosphoserine
Modified residue 32 – 32 Phosphoserine; by CDK1

Literature citations

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
Pica E.C.; Kathirvel P.; Pramono Z.A.; Lai P.S.; Yee W.C.;
Neuromuscul. Disord. 18:178-182(2008)
Cited for: VARIANT MFM1 PHE-13;

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen J.P.; Van Gelder I.C.; Asimaki A.; Suurmeijer A.J.; Wiesfeld A.C.; Jongbloed J.D.; van den Wijngaard A.; Kuks J.B.; van Spaendonck-Zwarts K.Y.; Notermans N.; Boven L.; van den Heuvel F.; Veenstra-Knol H.E.; Saffitz J.E.; Hofstra R.M.; van den Berg M.P.;
Heart Rhythm 6:1574-1583(2009)

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.