Variant position: 104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 520 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 QLERAKSKPVAFAVKTNVSY CGALDEDVPVPSTAISFDAKD
Mouse QLERAKSKPVAFAVKTNVSY CGALDEDVPVPSTAISFDAKD
Rat QLERAKSKPVAFAVKTNVSY CGALDEDVPVPSTAISFDAKD
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 – 520 Voltage-dependent L-type calcium channel subunit beta-4
92 – 161 SH3
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
Escayg A.; De Waard M.; Lee D.D.; Bichet D.; Wolf P.; Mayer T.; Johnston J.; Baloh R.; Sander T.; Meisler M.H.;
Am. J. Hum. Genet. 66:1531-1539(2000)
Cited for: INVOLVEMENT IN EJM6 AND EIG9; VARIANT EA5 PHE-104;
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