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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51787: Variant p.Trp392Arg

Potassium voltage-gated channel subfamily KQT member 1
Gene: KCNQ1
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Variant information Variant position: help 392
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tryptophan (W) to Arginine (R) at position 392 (W392R, p.Trp392Arg).
Physico-chemical properties: help Change from large size and aromatic (W) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In LQT1; decreased potassium channel activity; decreased CALM binding in the presence or not of calcium..
Other resources: help


Sequence information Variant position: help 392
Protein sequence length: help 676
Location on the sequence: help ASLIQTAWRCYAAENPDSST W KIYIRKAPRSHTLLSPSPKP
Residue conservation: help 
Human                         ASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKP

Mouse                         ASLIQTAWRCYAAENPDSATWKIYVRKPARSHTLLSPSPKP

Rat                           ASLIQTAWRCYAAENPDSSTWKIYVRKPARSHTLLSPSPKP

Pig                           ASLIQTAWRCYAAENPDSSTWKIYVRKPSRSQALLSPSPKP

Rabbit                        ASLIQTAWRCYAAENPDSATWKIYIRKPTRGHALLSPSPKP

Xenopus laevis                ASLIQTAWRCYAAENPDSATWKIYIRKQSRNHHLMSPSPKP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 676 Potassium voltage-gated channel subfamily KQT member 1
Topological domain 349 – 676 Cytoplasmic
Modified residue 407 – 407 Phosphoserine
Modified residue 409 – 409 Phosphoserine
Mutagenesis 375 – 375 I -> D. Reduced protein expression, probably due to misfolding and proteasomal degradation. No detectable electrophysiological activity. Reduced electrophysiological activity in the presence of KCNE1.
Helix 390 – 394



Literature citations
Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations.
Shamgar L.; Ma L.; Schmitt N.; Haitin Y.; Peretz A.; Wiener R.; Hirsch J.; Pongs O.; Attali B.;
Circ. Res. 98:1055-1063(2006)
Cited for: INTERACTION WITH CALM; ACTIVITY REGULATION; DOMAIN; CHARACTERIZATION OF VARIANTS LQT1 TRP-366; PRO-366; THR-371; PRO-373; ARG-392 AND ASN-393; Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed R.J.E.; Wilde A.A.M.; Geelen J.L.M.C.; Doevendans P.; Schaap C.; van Langen I.; van Tintelen J.P.; Cobben J.M.; Beaufort-Krol G.C.M.; Geraedts J.P.M.; Smeets H.J.M.;
Hum. Mutat. 13:301-310(1999)
Cited for: VARIANTS LQT1 SER-184; ARG-189; SER-314; SER-315; ARG-345; PRO-373 AND ARG-392;
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.