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UniProtKB/Swiss-Prot Q15858: Variant p.Thr1475Ile

Sodium channel protein type 9 subunit alpha
Gene: SCN9A
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Variant information Variant position: help 1475
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Isoleucine (I) at position 1475 (T1475I, p.Thr1475Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Variant description: help In PEXPD; reduction in fast inactivation leading to persistent sodium current.
Other resources: help


Sequence information Variant position: help 1475
Protein sequence length: help 1988
Location on the sequence: help VIIDNFNQQKKKLGGQDIFM T EEQKKYYNAMKKLGSKKPQK
Residue conservation: help 
Human                         VIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQK

Mouse                         VIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQK

Rat                           VIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQK

Rabbit                        VIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1988 Sodium channel protein type 9 subunit alpha
Topological domain 1458 – 1514 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.



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.