This data was extracted from Medline abstracts and full texts (when available) in an automated manner.
The table below describes the selected point mutation and provides links to other documents. The sentence(s) where the point mutation G601S was found are listed after the table.
The mutated residues are also indicated in the family sequence alignments and hyperlinked to the corresponding mutation pages.
|General numbering (KChannelDB):||-|
|Protein:||KCNH2_HUMAN (KCNH2,ERG, ERG1, HERG, HERG)||Swiss-Prot|
|Other point mutations / same protein / same position||Point mutations at position 601 in KCNH2_HUMAN|
|Other point mutations / same protein||List of mutations in KCNH2_HUMAN|
eag related KCNH (Kv10-12)|
K+ voltage-gated channels (Kv1-12,Kca2-5)
Potassium channels 6 TMs
|Other point mutations / same position||
Position 601 in eag related KCNH (Kv10-12) family |
Position 589 in K+ voltage-gated channels (Kv1-12,Kca2-5) family
|Reference:||Retention in the endoplasmic reticulum as a mechanism of dominant-negative current suppression in human long QT syndrome.|
Ficker E, Dennis AT, Obejero-Paz CA, Castaldo P, Taglialatela M, Brown AM
J Mol Cell Cardiol 2000 Dec;32(12):2327-37.
|Other point mutations / same article||List|
|Text source||PDF full text|
|Validation status||Not yet checked|