KCNE1

KCNE1 Locus table - KCNE1 synopsis


OMIM: *176261 - #220400

SWISS-PROT:P15382

AA numbering is based on Gene Bank cDNA: NM000219


Allele frequencies of the uncommon variant are reported for polymorphisms  

Nucleotide Change
Aminoacid Change
Mutation
Type
Protein Domain
Allele Frequency
Phenotype
References
Ins13T  5X Insertion Extracellular   JNLS
Schulze-Bahr et al.
C20T T7I Missense Extracellular   JNLS
n.d. D (11-38) Deletion# Extracellular   -
IVS2 -129t>c - SNP Extracellular 0.41 -
IVS2 -128g>a - SNP Extracellular 0.402 -
IVS2 -59t>c - SNP Extracellular 0.01 -
C83T S28L Missense Extracellular   RW+AVblock
G84A S28S (1) SNP Extracellular 0.02(2) / 0.01(3) -
G95A R32H Missense Extracellular   RWS
G107A R36H Missense Extracellular   RWS Napolitano et al 2005
A112G S38G SNP Extracellular 0.69(2,3) / 0.38 for S38G (3) -
n.d. D (39-43) Deletion# Extracellular   -
n.d. D39N Missense# Extracellular   -
n.d. D (L42) Deletion# Extracellular   -
n.d. E43N Missense# Extracellular   -
n.d. V47H-L51H Missense# Transmembrane   JLNS
G154A G52R Missense Transmembrane   RWS
G155C G52A SNP Transmembrane Black 0.3
Asian 0.0
White 0.0
Hispanic 0.0
N
T158C F53S Missense Transmembrane     Napolitano et al 2005
n.d. T59P-L60P Missense Transmembrane   JLNS
n.d. S68T Missense# Cytoplasmatic   -
A206G K69R Polymoprhism Transmembrane Black 0.3
Asian 0.0
White 0.0
Hispanic 0.0
N
  K70N Missense Transmembrane   RWS Lai et al. 2005
C221T S74L Missense# Cytoplasmatic   RWS
n.d. S74A Missense# Cytoplasmatic   -
G226A D76N Missense Cytoplasmatic   RWS/JLNS
n.d. N79D Missense# Cytoplasmatic   -
  Y81C Missense Cytoplasnatuc   RWS Lai et al. 2005
n.d. Y81F Missense# Cytoplasmatic   -
T259C W87R Missense# Cytoplasmatic   RWS
n.d. D (80-129)  Deletion# Cytoplasmatic   -
n.d. D (73-79) Deletion# Cytoplasmatic   -
n.d. D (73-129) Deletion# Cytoplasmatic   -
G253A D85N
SNP Cytoplasmatic 0.03(2,5)/ 0.01 (3) -
C292A  R98W Missense C-term   RWS
  V109I Missense C-term (6) RWS
- 115X Deletion C-term   JLNS
Schulze-Bahr et al
C379A P127T Missense C-term   RWS
C*124 a>g - SNP 3'UTR 0.5 -
C*132 a>g - SNP 3'UTR 0.03 -
C*456 c>t - SNP 3'UTR 0.05  

(1) compound heterozygous with KCNH2 A561T
(2) Allele frequency of the heterozygotes reported by Jongbloed et al 2002
(3)
Reported by Aydin et al 2004. Ethnic origin not specified;
(4) Allele frequencies of G38S according to Ackerman et al: Black 36.1; Asian 16.4; White 44.9; Hispanic 48.5
(5)
Allele frequencies of D85N according to Ackerman et al: Black 0.7; Asian 0.7; White 1.1; Hispanic 0.0
(6)
Allele frequency reported by Ackerman et al 2003 among Black people: 0.3

 

Other links for KCNE1:

* The mutation was also identified in apparently healthy, unrelated individuals.

# The mutation has been expressed by in-vitro analysis.

- The mutation has been generated for in-vitro expression experiments, but has not been found in patients yet.

n.d. not determined; N = NORMAL

RWS Romano-Ward syndrome

JLNS Jervell and Lange-Nielsen syndrome

aLQTS Acquired long-QT syndrome

 

Contributor: Eric Schulze-Bahr, M.D.

-----------------------------------------------------------------------------------------------------------------------------------