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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17661: Variant p.Asn342Asp

Gene: DES
Variant information Variant position: help 342 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 Asparagine (N) to Aspartate (D) at position 342 (N342D, p.Asn342Asp). 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 medium size and polar (N) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In MFM1; unable to form a filamentous network; abolishes binding to MTM1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 342 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 MEYRHQIQSYTCEIDALKGT N DSLMRQMRELEDRFASEASG 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.








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.
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
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
Kaminska A.; Strelkov S.V.; Goudeau B.; Olive M.; Dagvadorj A.; Fidzianska A.; Simon-Casteras M.; Shatunov A.; Dalakas M.C.; Ferrer I.; Kwiecinski H.; Vicart P.; Goldfarb L.G.;
Hum. Genet. 114:306-313(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MFM1 ASP-342; PRO-357; 359-GLU--SER-361 DEL; ASN-366 DEL AND PRO-370; VARIANT VAL-213; Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Hnia K.; Tronchere H.; Tomczak K.K.; Amoasii L.; Schultz P.; Beggs A.H.; Payrastre B.; Mandel J.L.; Laporte J.;
J. Clin. Invest. 121:70-85(2011)
Cited for: INTERACTION WITH MTM1; CHARACTERIZATION OF VARIANTS ASP-342; PRO-357; PRO-360 AND PRO-370; SUBUNIT; Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Dalakas M.C.; Park K.-Y.; Semino-Mora C.; Lee H.S.; Sivakumar K.; Goldfarb L.G.;
N. Engl. J. Med. 342:770-780(2000)
Cited for: VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451; CHARACTERIZATION OF VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451;
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.