Variant position: 352 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 655 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 IIIFATVMFYAEKGSSASKF TSIPASFWYTIVTMTTLGYGD
Mouse IIIFATVMFYAEKGSSASKF TSIPASFWYTIVTMTTLGYGD
Rat IIIFATVMFYAEKGSSASKF TSIPASFWYTIVTMTTLGYGD
Rabbit IIIFATVMFYAEKGSSASKF TSIPASFWYTIVTMTTLGYGD
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 – 655 Potassium voltage-gated channel subfamily D member 3
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A.; Jezierska J.; Fokkens M.; Meijer M.; Schelhaas H.J.; den Dunnen W.F.; van Dijk F.; Verschuuren-Bemelmans C.; Hageman G.; van de Vlies P.; Kusters B.; van de Warrenburg B.P.; Kremer B.; Wijmenga C.; Sinke R.J.; Swertz M.A.; Kampinga H.H.; Boddeke E.; Verbeek D.S.;
Ann. Neurol. 72:870-880(2012)
Cited for: VARIANTS SCA19 PRO-352; ILE-373 AND ASN-390; CHARACTERIZATION OF VARIANTS SCA19 PRO-352; ILE-373 AND ASN-390;
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