Variant position: 1472 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1988 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 FIGVIIDNFNQQKKKLGGQD IFMTEEQKKYYNAMKKLGSKK
Mouse FIGVIIDNFNQQKKKLGGQD IFMTEEQKKYYNAMKKLGSKK
Rat FIGVIIDNFNQQKKKLGGQD IFMTEEQKKYYNAMKKLGSKK
Rabbit FIGVIIDNFNQQKKKLGGQD 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 – 1988 Sodium channel protein type 9 subunit alpha
1454 – 1516 Cytoplasmic
1180 – 1488 III
1490 – 1490 Phosphoserine; by PKC
1490 – 1490 S -> A. Abolishes stimulation by agents that stimulate PKC activity.
1490 – 1490 S -> DE. Increases current amplitude.
1472 – 1474
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
Fertleman C.R.; Baker M.D.; Parker K.A.; Moffatt S.; Elmslie F.V.; Abrahamsen B.; Ostman J.; Klugbauer N.; Wood J.N.; Gardiner R.M.; Rees M.;
Cited for: VARIANTS PEPD CYS-1007; PHE-1309; ASP-1309; PHE-1310; THR-1472; VAL-1473; ILE-1475 AND LYS-1638; CHARACTERIZATION OF VARIANTS PEPD THR-1472; ILE-1475 AND LYS-1638; FUNCTION;
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.