Sequence information
Variant position: 95 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 498 The length of the canonical sequence.
Location on the sequence:
QHAGSNPGQRVTTTYNQSPA
S FLSSILPSQPDYNSSKIPSA
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 QHAGSNPGQRVTTTYNQSPAS FLSSILPSQPDYNSSKIPSA
Mouse QLAGPNPGQKVTATYNQSPAS FLSSILPSQPDYCNSKIPST
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
1 – 498
Myotilin
Region
64 – 151
Disordered
Region
79 – 150
Necessary for interaction with ACTN1
Compositional bias
64 – 141
Polar residues
Alternative sequence
1 – 184
Missing. In isoform 2.
Literature citations
Mutations in myotilin cause myofibrillar myopathy.
Selcen D.; Engel A.G.;
Neurology 62:1363-1371(2004)
Cited for: VARIANTS MFM3 PHE-55; CYS-60; PHE-60 AND ILE-95;
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.