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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17661: Variant p.Ile451Met

Desmin
Gene: DES
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Variant information Variant position: help 451 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 Isoleucine (I) to Methionine (M) at position 451 (I451M, p.Ile451Met). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 CMD1I and MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions; reduced interaction with CRYAB. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 451 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 TSPEQRGSEVHTKKTVMIKT I ETRDGEVVSEATQQQHEVL 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                         TSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL

                              TSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL

Mouse                         TSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL

Rat                           TSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL

Pig                           TSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL

Bovine                        TSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL

Chicken                       TSPDQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL

Xenopus laevis                TSPEQRASEVHTKKTVMIKTIETRDGEVLSEASQQHQEIL
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
Region 413 – 470 Tail
Region 438 – 453 Interaction with CRYAB



Literature citations
Desmin mutation responsible for idiopathic dilated cardiomyopathy.
Li D.; Tapscoft T.; Gonzalez O.; Burch P.E.; Quinones M.A.; Zoghbi W.A.; Hill R.; Bachinski L.L.; Mann D.L.; Roberts R.;
Circulation 100:461-464(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT CMD1I MET-451; INVOLVEMENT IN CMD1I; 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; Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Baer H.; Goudeau B.; Waelde S.; Casteras-Simon M.; Muecke N.; Shatunov A.; Goldberg Y.P.; Clarke C.; Holton J.L.; Eymard B.; Katus H.A.; Fardeau M.; Goldfarb L.; Vicart P.; Herrmann H.;
Hum. Mutat. 28:374-386(2007)
Cited for: VARIANTS MFM1 ILE-442; TRP-454 AND ILE-460; CHARACTERIZATION OF VARIANTS MFM1 ILE-442; MET-451; TRP-454 AND ILE-460; alphaB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
Sharma S.; Conover G.M.; Elliott J.L.; Der Perng M.; Herrmann H.; Quinlan R.A.;
Cell Stress Chaperones 22:613-626(2017)
Cited for: CHARACTERIZATION OF VARIANTS MFM1 MET-451 AND TRP-454; INTERACTION WITH CRYAB;
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.