Variant position: 270 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1836 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 LSDVMILTVFCLSVFALVGL QLFMGNLRQKCVRWPPPFNDT
Mouse LSDVMILTVFCLSVFALVGL QLFMGNLRQKCVRWPPPMNDT
Rat LSDVMILTVFCLSVFALVGL QLFMGNLRQKCVRWPPPMNDT
Horse LSDVMILTVFCLSVFALVGL QLFMGNLRQKCVRWPQPFNDT
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 – 1836 Sodium channel protein type 4 subunit alpha
253 – 272 Helical; Name=S5 of repeat I
113 – 454 I
288 – 288 N-linked (GlcNAc...) asparagine
251 – 272
Cold extends electromyography distinction between ion channel mutations causing myotonia.
Fournier E.; Viala K.; Gervais H.; Sternberg D.; Arzel-Hezode M.; Laforet P.; Eymard B.; Tabti N.; Willer J.-C.; Vial C.; Fontaine B.;
Ann. Neurol. 60:356-365(2006)
Cited for: VARIANT PMC LYS-270; VARIANTS MYOSCN4A THR-715; ASN-804 AND ASN-1310;
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E.; Tan S.V.; Fialho D.; Sweeney M.G.; Sud R.; Haworth A.; Stanley E.; Cea G.; Davis M.B.; Hanna M.G.;
Cited for: VARIANTS PMC LYS-270; MET-704; ALA-1306; GLU-1306; MET-1313; PRO-1436; CYS-1448; HIS-1448; LEU-1448; GLU-1456; SER-1473 AND MET-1589;
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