Sequence information
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:
FIGVIIDNFNQQKKKLGGQD
I FMTEEQKKYYNAMKKLGSKK
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 FIGVIIDNFNQQKKKLGGQDI FMTEEQKKYYNAMKKLGSKK
Mouse FIGVIIDNFNQQKKKLGGQDI FMTEEQKKYYNAMKKLGSKK
Rat FIGVIIDNFNQQKKKLGGQDI FMTEEQKKYYNAMKKLGSKK
Rabbit FIGVIIDNFNQQKKKLGGQDI FMTEEQKKYYNAMKKLGSKK
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
Chain
1 – 1988
Sodium channel protein type 9 subunit alpha
Topological domain
1454 – 1516
Cytoplasmic
Repeat
1180 – 1488
III
Modified residue
1490 – 1490
Phosphoserine; by PKC
Mutagenesis
1490 – 1490
S -> A. Abolishes stimulation by agents that stimulate PKC activity.
Mutagenesis
1490 – 1490
S -> DE. Increases current amplitude.
Beta strand
1472 – 1474
Literature citations
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.;
Neuron 52:767-774(2006)
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;
Disclaimer:
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.