Variant position: 1310 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 FIGVIIDNFNQQKKKLGGKD IFMTEEQKKYYNAMKKLGSKK
Mouse FIGVIIDNFNQQKKKFGGKD IFMTEEQKKYYNAMKKLGSKK
Rat FIGVIIDNFNQQKKKFGGKD IFMTEEQKKYYNAMKKLGSKK
Horse LIRLIIVNFNQQKKKLGGKD IFMTEEQKKYYNAMKKLGSKK
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
1292 – 1354 Cytoplasmic
1013 – 1326 III
1310 – 1312 Important for rapid channel inactivation
1328 – 1328 Phosphoserine; by PKC
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.