Variant position: 715 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 NSVGALGNLTLVLAIIVFIF AVVGMQLFGKSYKECVCKIAL
Mouse NSVGALGNLTLVLAIIVFIF AVVGMQLFGKSYKECVCKIAS
Rat NSVGALGNLTLVLAIIVFIF AVVGMQLFGKSYKECVCKIAS
Horse NSGGGLGNLTLVLAIIVVNF SVVGMQLFGKNYKECVCKNAS
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
699 – 717 Helical; Name=S5 of repeat II
560 – 832 II
729 – 729 Interchain; with SCN2B or SCN4B
729 – 729 Interchain; with the conotoxin GVIIJ (when the channel is not linked to SCN2B or SCN4B; the bond to SCN2B or SCN4B protects the channel from the inhibition by toxin)
703 – 726
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.