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UniProtKB/Swiss-Prot Q15858: Variant p.Met1638Lys

Sodium channel protein type 9 subunit alpha
Gene: SCN9A
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Variant information Variant position: help 1638
Type of variant: help LP/P [Disclaimer]
Residue change: help From Methionine (M) to Lysine (K) at position 1638 (M1638K, p.Met1638Lys).
Physico-chemical properties: help Change from medium size and hydrophobic (M) to large size and basic (K)
BLOSUM score: help -1
Variant description: help In PEXPD; reduction in fast inactivation leading to persistent sodium current.


Sequence information Variant position: help 1638
Protein sequence length: help 1988
Location on the sequence: help GRILRLVKGAKGIRTLLFAL M MSLPALFNIGLLLFLVMFIY
Residue conservation: help 
Human                         GRILRLVKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIY

Mouse                         GRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIY

Rat                           GRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIY

Rabbit                        GRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1988 Sodium channel protein type 9 subunit alpha
Topological domain 1628 – 1640 Cytoplasmic
Repeat 1497 – 1795 IV
Mutagenesis 1643 – 1643 A -> D. Depolarizes the voltage-dependence of steady-state fast inactivation; enhances persistent current.
Mutagenesis 1643 – 1643 A -> K. No effect on voltage-dependence of steady-state fast inactivation.
Mutagenesis 1643 – 1643 A -> V. No effect on voltage-dependence of steady-state fast inactivation.
Helix 1631 – 1639



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 PEXPD CYS-1007; PHE-1309; ASP-1309; PHE-1310; THR-1472; VAL-1473; ILE-1475 AND LYS-1638; CHARACTERIZATION OF VARIANTS PEXPD 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.