Variant position: 598 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4646 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 ANEMFRIFSRFNALFVRPHI RGAIREYQTQLIQRVKDDIES
Mouse ANEMFRIFSRFNALFVRPHI RGAIREYQTQLIQRVKDDIES
Rat ANEMFRIFSRFNALFVRPHI RGAIREYQTQLIQRVKDDIES
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.
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
Peeters K.; Bervoets S.; Chamova T.; Litvinenko I.; De Vriendt E.; Bichev S.; Kancheva D.; Mitev V.; Kennerson M.; Timmerman V.; De Jonghe P.; Tournev I.; MacMillan J.; Jordanova A.;
Hum. Mutat. 36:287-291(2015)
Cited for: VARIANT LYS-94; VARIANT SMALED1 LEU-264; VARIANT CMT2O CYS-598; CHARACTERIZATION OF VARIANT SMALED1 LEU-264; CHARACTERIZATION OF VARIANT CMT2O CYS-598; INTERACTION WITH BICD2;
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.
Punetha J.; Monges S.; Franchi M.E.; Hoffman E.P.; Cirak S.; Tesi-Rocha C.;
Pediatr. Neurol. 52:239-244(2015)
Cited for: VARIANT SMALED1 CYS-598;
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