Variant position: 7 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 385 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 MAAVVA ATALKGRGARNARVLRGILAG
Mouse MAAVVA ATALKGRGARNARVLRGILSG
Bovine MAAVVA ATALKGRGARNARVLRGILSG
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
1 – 385 Probable hydrolase PNKD
1 – 79 MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSHSSPEGKEEPEPLSPELEYIPRKRGKNPMKAVGLAW -> MAWQGWPAAWQWVAGCWLLLVLVLVLLVSPRGCRARRGLRGLLMAHSQRLLFRIG. In isoform 3.
1 – 60 Missing. In isoform 4.
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
Rainier S.; Thomas D.; Tokarz D.; Ming L.; Bui M.; Plein E.; Zhao X.; Lemons R.; Albin R.; Delaney C.; Alvarado D.; Fink J.K.;
Arch. Neurol. 61:1025-1029(2004)
Cited for: VARIANTS DYT8 VAL-7 AND VAL-9; TISSUE SPECIFICITY;
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.
Chen D.-H.; Matsushita M.; Rainier S.; Meaney B.; Tisch L.; Feleke A.; Wolff J.; Lipe H.; Fink J.; Bird T.D.; Raskind W.H.;
Arch. Neurol. 62:597-600(2005)
Cited for: VARIANTS DYT8 VAL-7 AND VAL-9;
Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia.
Hempelmann A.; Kumar S.; Muralitharan S.; Sander T.;
Neurosci. Lett. 402:118-120(2006)
Cited for: VARIANT DYT8 VAL-7;
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