Variant position: 619 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 870 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 DLRQIELACDSQEDVDSWKA SFLRAGVYPEKDQAENEDGAQ
Mouse DLRQIELACDSQEDVDSWKA SFLRAGVYPEKDQAENEDGAQ
Rat DLRQIELACDSQEDVDSWKA SFLRAGVYPEKDQAENEDGAQ
Bovine DLRQIELACDSQEDVDSWKA SFLRAGVYPEKDQAENEDGAQ
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.
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Bitoun M.; Bevilacqua J.A.; Prudhon B.; Maugenre S.; Taratuto A.L.; Monges S.; Lubieniecki F.; Cances C.; Uro-Coste E.; Mayer M.; Fardeau M.; Romero N.B.; Guicheney P.;
Ann. Neurol. 62:666-670(2007)
Cited for: VARIANTS CNM1 THR-618; LEU-619; TRP-619 AND VAL-625 DEL;
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman R.D.; Quijano-Roy S.; Yang N.; Webster R.; Clarke N.F.; Dowling J.; Kennerson M.; Nicholson G.; Biancalana V.; Ilkovski B.; Flanigan K.M.; Arbuckle S.; Malladi C.; Robinson P.; Vucic S.; Mayer M.; Romero N.B.; Urtizberea J.A.; Garcia-Bragado F.; Guicheney P.; Bitoun M.; Carlier R.Y.; North K.N.;
Neuromuscul. Disord. 20:229-237(2010)
Cited for: VARIANTS CNM1 LYS-368; TRP-465; HIS-522; THR-618; LEU-619 AND HIS-627;
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