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-SS SSVTSRVYQVSRTSGGAGGL
Mouse LGSPLSSPVFP-RAGFGTKG-SS SSMTSRVYQVSRTSGGAG
Rat LGSPLSSPVFP-RAGFGTKG-SS SSVTSRVYQVSRTSGGAG
Pig LGSPLSSPVFP-RAGFGTKG-SS SSVTSRVYQVSRTSGGAG
Bovine LGSPLSSPVFP-RAGFGTKG-SS SSVTSRVYQVSRTSGGAG
Chicken -----TSPVFP-RASFGSRG-SG SSVTSRVYQVSRTSA-VP
Xenopus laevis ------SPSFSTRSSFGSKGASS SSVSSRVYQVSRSTA-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.
Type Positions Description
Chain
2 – 470
Desmin
Region
2 – 108
Head
Modified residue
28 – 28
Phosphoserine; by CDK1
Modified residue
31 – 31
Phosphoserine
Modified residue
32 – 32
Phosphoserine; by CDK1
Modified residue
37 – 37
Asymmetric dimethylarginine; alternate
Modified residue
37 – 37
Omega-N-methylarginine; alternate
Modified residue
45 – 45
Phosphoserine
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;
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.