ANKB - LQT4 and related phenotypes

Link to: LQT4 Locus table

External links: OMIM 600919 - Gene - cDNA (splice variants) - Protein

 

Nucleotide
Change
Amino Acid Change
Mutation
Type
Comment
Phenotype
References
  G475R cSNP   TdP Mank-Seymour 2006
C2061T N687S cSNP   TdP Mank-Seymour 2006
  V708M cSNP   TdP Mank-Seymour 2006
A4274G
E1425G
Missense
   LQT4
C4348 T R1450W cSNP found in 1% of 100 healthy subjects - Sherman J et al. 2005
G4354A E1452K Missense   Syncope, U waves, sinus bradycardia Sherman J et al. 2005
C4507G L1503V Missense   Syncope, sinus braadicardia Sherman J et al. 2005
G4546A V1516I Missense

found in 6subjects spanning from normal to over LQT phenotype and cardiac arrest. Three of them were associated with mutations in other LQTS genes

Bordeline/prolonged QT, syncope and cardiac arrest Sherman J et al. 2005
C4655A T1552N cSNP found in 1% amon 100 healthy subjects   Sherman J et al. 2005
G4732 A E1578K Missense in the same pt also present: A561T-KCNH2 Cardiac arrest during sleep Sherman J et al. 2005
C4864A L1622I Missense found also in "normal" individuals by Sherman et al. Polymorphic VT, Syncope, atypical T wasve, normal QT Mohler et al. 2004 ; Sherman J et al. 2005
C4877A T1626N
Missense
 found also in "normal" individuals by Sherman et al. Long QT, SCD Mohler et al. 2004
G5162C S1721T Missense in the same pt also present: T75M-KCNJ2 n.a. Sherman J et al. 2005
C5177A T1726N Missense   Syncope, U waves Sherman J et al. 2005
C5363T R1788W Missense found also in "normal" individuals by Sherman et al. Syncope, long QT, sinus bradycardia Mohler et al. 2004 ; Sherman J et al. 2005
T5371 C S1791P cSNP found in 1% amon 100 healthy subjects   Sherman J et al. 2005
G5437A E1813K Missense found in 1% amon 100 healthy subjects Arrhythmias, IVF Mohler et al. 2004 ; Sherman J et al. 2005
  V2369A cSNP   TdP Mank-Seymour 2006
  A2423P cSNP   TdP Mank-Seymour 2006
  P2835S cSNP   TdP Mank-Seymour 2006
  I3285T cSNP   TdP Mank-Seymour 2006
  S3300R cSNP   TdP Mank-Seymour 2006