Variant position: 1643 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 LVKGAKGIRTLLFALMMSLP ALFNIGLLLFLVMFIYAIFGM
Mouse LIKGAKGIRTLLFALMMSLP ALFNIGLLLFLVMFIYAIFGM
Rat LIKGAKGIRTLLFALMMSLP ALFNIGLLLFLVMFIYAIFGM
Rabbit LIKGAKGIRTLLFALMMSLP ALFNIGLLLFLVMFIYAIFGM
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
1625 – 1643 Cytoplasmic
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.
1641 – 1666
NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.
Estacion M.; Dib-Hajj S.D.; Benke P.J.; Te Morsche R.H.; Eastman E.M.; Macala L.J.; Drenth J.P.; Waxman S.G.;
J. Neurosci. 28:11079-11088(2008)
Cited for: VARIANT PERYTHM GLU-1643; CHARACTERIZATION OF VARIANT PERYTHM GLU-1643; VARIANT PEPD GLU-1643; CHARACTERIZATION OF VARIANT PEPD GLU-1643;
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.