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:
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-S SSSVTSRVYQVSRTSGGAGGL
Mouse LGSPLSSPVFP-RAGFGTKG-S SSSMTSRVYQVSRTSGGAG
Rat LGSPLSSPVFP-RAGFGTKG-S SSSVTSRVYQVSRTSGGAG
Pig LGSPLSSPVFP-RAGFGTKG-S SSSVTSRVYQVSRTSGGAG
Bovine LGSPLSSPVFP-RAGFGTKG-S SSSVTSRVYQVSRTSGGAG
Chicken -----TSPVFP-RASFGSRG-S GSSVTSRVYQVSRTSA-VP
Xenopus laevis ------SPSFSTRSSFGSKGAS SSSVSSRVYQVSRSTA-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
2 – 470 Desmin
2 – 108 Head
28 – 28 Phosphoserine; by CDK1
31 – 31 Phosphoserine
32 – 32 Phosphoserine; by CDK1
37 – 37 Asymmetric dimethylarginine; alternate
37 – 37 Omega-N-methylarginine; alternate
45 – 45 Phosphoserine
48 – 48 Phosphoserine
51 – 51 Phosphoserine
58 – 58 ADP-ribosylarginine
60 – 60 Phosphoserine; by AURKB
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Selcen D.; Ohno K.; Engel A.G.;
Cited for: VARIANTS MFM1 ILE-2; TYR-46; PHE-46 AND THR-449;
Nebulin binding impedes mutant desmin filament assembly.
Baker L.K.; Gillis D.C.; Sharma S.; Ambrus A.; Herrmann H.; Conover G.M.;
Mol. Biol. Cell 24:1918-1932(2013)
Cited for: CHARACTERIZATION OF VARIANTS MFM1 PHE-46; ASP-245 AND ILE-453; INTERACTION WITH NEB;
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.