UniProtKB/Swiss-Prot P17661: Variant p.Ser46Phe

Desmin
Gene: DES
Chromosomal location: 2q35
Variant information

Variant position:  46
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Serine (S) to Phenylalanine (F) at position 46 (S46F, p.Ser46Phe).
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; entirely similar expression patterns as the wild-type.
Any additional useful information about the variant.

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



Sequence information

Variant position:  46
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  470
The length of the canonical sequence.

Location on the sequence:   LGSPLSSPVFPRAGFGSKGS  S SSVTSRVYQVSRTSGGAGGL
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.

Human                         LGSPLSSPVFP-RAGFGSKG-SSSSVTSRVYQVSRTSGGAGGL

Mouse                         LGSPLSSPVFP-RAGFGTKG-SSSSMTSRVYQVSRTSGGAG

Rat                           LGSPLSSPVFP-RAGFGTKG-SSSSVTSRVYQVSRTSGGAG

Pig                           LGSPLSSPVFP-RAGFGTKG-SSSSVTSRVYQVSRTSGGAG

Bovine                        LGSPLSSPVFP-RAGFGTKG-SSSSVTSRVYQVSRTSGGAG

Dog                           LGSPLGSPVFP-RAGFGTKG-SSSSVTSRVYQVSRTSGGAG

Chicken                       -----TSPVFP-RASFGSRG-SGSSVTSRVYQVSRTSA-VP

Xenopus laevis                ------SPSFSTRSSFGSKGASSSSVSSRVYQVSRSTA-AP

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.

TypePositionsDescription
Chain 1 – 470 Desmin
Region 1 – 108 Head
Modified residue 58 – 58 ADP-ribosylarginine
Modified residue 60 – 60 Phosphoserine; by AURKB


Literature citations

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Selcen D.; Ohno K.; Engel A.G.;
Brain 127:439-451(2004)
Cited for: VARIANTS MFM1 ILE-2; TYR-46; PHE-46 AND THR-449; CHARACTERIZATION OF VARIANTS MFM1 ILE-2; TYR-46; PHE-46 AND THR-449;

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.