Variant position: 1623 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 FVSPTLFRVIRLARIGRILR LVKGAKGIRTLLFALMMSLPA
Mouse FVSPTLFRVIRLARIGRILR LIKGAKGIRTLLFALMMSLPA
Rat FVSPTLFRVIRLARIGRILR LIKGAKGIRTLLFALMMSLPA
Rabbit FVSPTLFRVIRLARIGRILR LIKGAKGIRTLLFALMMSLPA
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
1608 – 1624 Helical; Name=S4 of repeat IV
1497 – 1795 IV
1643 – 1643 A -> D. Depolarizes the voltage-dependence of steady-state fast inactivation; enhances persistent current.
1643 – 1643 A -> K. No effect on voltage-dependence of steady-state fast inactivation.
1643 – 1643 A -> V. No effect on voltage-dependence of steady-state fast inactivation.
1623 – 1626
p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.
Suter M.R.; Bhuiyan Z.A.; Laedermann C.J.; Kuntzer T.; Schaller M.; Stauffacher M.W.; Roulet E.; Abriel H.; Decosterd I.; Wider C.;
Cited for: VARIANT PEPD PRO-1623; CHARACTERIZATION OF VARIANT PEPD PRO-1623;
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