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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q09470: Variant p.Phe184Cys

Potassium voltage-gated channel subfamily A member 1
Gene: KCNA1
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Variant information Variant position: help 184
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Cysteine (C) at position 184 (F184C, p.Phe184Cys).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and polar (C)
BLOSUM score: help -2
Variant description: help In EA1; alters voltage dependence and kinetics of activation though not of C-type inactivation.
Other resources: help


Sequence information Variant position: help 184
Protein sequence length: help 495
Location on the sequence: help GPARVIAIVSVMVILISIVI F CLETLPELKDDKDFTGTVHR
Residue conservation: help 
Human                         GPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTVHR

Mouse                         GPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTIHR

Rat                           GPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTIHR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 495 Potassium voltage-gated channel subfamily A member 1
Transmembrane 165 – 186 Helical; Name=Segment S1
Mutagenesis 177 – 177 I -> N. Slows down N-type inactivation of heteromeric channels formed by KCNA1 and KCNA4.



Literature citations
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
Browne D.L.; Brunt E.R.P.; Griggs R.C.; Nutt J.G.; Gancher S.T.; Smith E.A.; Litt M.;
Hum. Mol. Genet. 4:1671-1672(1995)
Cited for: VARIANTS EA1 PHE-174; CYS-184 AND ASP-325; Episodic ataxia results from voltage-dependent potassium channels with altered functions.
Adelman J.P.; Bond C.T.; Pessia M.; Maylie J.;
Neuron 15:1449-1454(1995)
Cited for: CHARACTERIZATION OF VARIANTS EA1 CYS-184; ASP-325 AND ALA-408; FUNCTION; TRANSPORTER ACTIVITY;
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.