KCNE2

KCNE2 Locus table - KCNE2 synopsis


OMIM: *603796 ; Gene id: 9992

AA numbering is based on Gene Bank cDNA: NM_005136

Nucleotide
Change
Amino Acid Change
Mutation
Type
cDNA/Protein
Domain
Allele Frequency (polymorphisms)
Phenotype
References
-77 GA
-
SNP
5'UTR
0.08
-
-28AG
-
SNP
A:0.982; G:0.018(1) - 0.10(2)
- -
IVS1 -44 c>t
-
SNP
-
0.18
-
IVS1 -16 a>g
-
SNP
-
0.05
-
A22G
cSNP#
Extracellular
0.03(2, 3) / 0.01(5)
RWS, aLQTS
C25G
Missense#
Extracellular
1 (4)
aLQTS ; SIDS
Abbott et al. (1999) ; nonsyn. SNP
C79T
R27C
Missense
Extracellular
-
156-161del
52-54del.YLM>X
Deletion
Transmembrane
RWS
T161C
Missense#
Transmembrane
1
RWS/aLQTS
A166G+169InsATG
M56V/57InsM
Missense/Insertion
Transmembrane
T170C
Missense#
Transmembrane
1
RWS/aLQTS
C176T
F60L
Missense
Transemembrane
TdP/RW
C197T
A66V
Missense#
Transmembrane
(4)
-
C229T R77W Missense Transmembrane   - Millat et al. 2006(1)
G139A
Missense#
Transmembrane
2
RWS
-
Missense#
Intracellular
1
aLQTS

(1) Larsen et al; (2) Jongbloed et al. 2002. (3) Found in 1.1% of White people by Ackerman et al 2003.
(4) Found in 3% of Black people by Ackerman et al 2003. ; Frequency reported by Aydin et al 2004

# The mutation has been expressed by in-vitro analysis. cSNP = conding single nucleotide polymorphism

n.d. not determined

RWS Romano-Ward syndrome; JLNS Jervell and Lange-Nielsen syndrome; aLQTS Acquired long-QT syndrome SIDS = Sudden Infant Death Syndrome
 

 

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