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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17661: Variant p.Arg350Pro

Desmin
Gene: DES
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Variant information Variant position: help 350 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Proline (P) at position 350 (R350P, p.Arg350Pro). 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 large size and basic (R) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In Kaeser syndrome and MFM1; incapable of de novo formation of a desmin intermediate filaments network; exerts a dominant negative effect on the ordered lateral arrangement of desmin subunits; may produce structural changes; forms subsarcolemmal aggregates. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 350 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 470 The length of the canonical sequence.
Location on the sequence: help SYTCEIDALKGTNDSLMRQM R ELEDRFASEASGYQDNIARL 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                         SYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARL

                              SYTCEIDALKGTNDSLMRQMREMEDRFASEASGYQDNIARL

Mouse                         SYTCEIDALKGTNDSLMRQMRELEDRFASEANGYQDNIARL

Rat                           SYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARL

Pig                           SYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARL

Bovine                        SYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARL

Chicken                       SYTCEIDALKGTNDSLMRQMREMEERFAGEAGGYQDTIARL

Xenopus laevis                SYTCEIDALKGTNDSLMRQMRDLEEKFSGEAAGYQDTIGRL
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 2 – 470 Desmin
Domain 108 – 416 IF rod
Region 268 – 415 Interaction with NEB
Region 296 – 412 Coil 2B
Modified residue 358 – 358 Phosphoserine
Modified residue 361 – 361 Phosphoserine



Literature citations
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
Baer H.; Fischer D.; Goudeau B.; Kley R.A.; Clemen C.S.; Vicart P.; Herrmann H.; Vorgerd M.; Schroeder R.;
Hum. Mol. Genet. 14:1251-1260(2005)
Cited for: VARIANT MFM1 PRO-350; CHARACTERIZATION OF VARIANT MFM1 PRO-350; Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Walter M.C.; Reilich P.; Huebner A.; Fischer D.; Schroeder R.; Vorgerd M.; Kress W.; Born C.; Schoser B.G.; Krause K.H.; Klutzny U.; Bulst S.; Frey J.R.; Lochmueller H.;
Brain 130:1485-1496(2007)
Cited for: VARIANT KAESER SYNDROME PRO-350; The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
Clemen C.S.; Stoeckigt F.; Strucksberg K.H.; Chevessier F.; Winter L.; Schuetz J.; Bauer R.; Thorweihe J.M.; Wenzel D.; Schloetzer-Schrehardt U.; Rasche V.; Krsmanovic P.; Katus H.A.; Rottbauer W.; Just S.; Mueller O.J.; Friedrich O.; Meyer R.; Herrmann H.; Schrickel J.W.; Schroeder R.;
Acta Neuropathol. 129:297-315(2015)
Cited for: CHARACTERIZATION OF VARIANT KAESER SYNDROME PRO-350; CHARACTERIZATION OF VARIANT MFM1 PRO-350; FUNCTION; SUBCELLULAR LOCATION;
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.