Variant position: 1389 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2339 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 MVLKHSVDATYEEQGPSPGY RMELSIFYVVYFVVFPFFFVN
Mouse MVLKHSVDATYEEQGPSPGF RMELSIFYVVYFVVFPFFFVN
Rat MVLKHSVDATYEEQGPSPGF RMELSIFYVVYFVVFPFFFVN
Rabbit MVLKHSVDATYEEQGPSPGY RMELSIFYVVYFVVFPFFFVN
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 – 2339 Voltage-dependent N-type calcium channel subunit alpha-1B
1305 – 1391 Extracellular
1137 – 1419 III
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Groen J.L.; Andrade A.; Ritz K.; Jalalzadeh H.; Haagmans M.; Bradley T.E.; Jongejan A.; Verbeek D.S.; Nuernberg P.; Denome S.; Hennekam R.C.; Lipscombe D.; Baas F.; Tijssen M.A.;
Hum. Mol. Genet. 24:987-993(2015)
Cited for: VARIANT HIS-1389; CHARACTERIZATION OF VARIANT HIS-1389;
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
Mencacci N.E.; R'bibo L.; Bandres-Ciga S.; Carecchio M.; Zorzi G.; Nardocci N.; Garavaglia B.; Batla A.; Bhatia K.P.; Pittman A.M.; Hardy J.; Weissbach A.; Klein C.; Gasser T.; Lohmann E.; Wood N.W.;
Hum. Mol. Genet. 24:5326-5329(2015)
Cited for: VARIANT HIS-1389;
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