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 R56Q 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):||-|
|Other point mutations / same protein||List of mutations in KCNH2_RABIT|
eag related KCNH (Kv10-12)|
K+ voltage-gated channels (Kv1-12,Kca2-5)
Potassium channels 6 TMs
|Other point mutations / same position||
Position 56 in eag related KCNH (Kv10-12) family |
Position 57 in K+ voltage-gated channels (Kv1-12,Kca2-5) family
|Reference:||Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome.|
Ficker E, Thomas D, Viswanathan PC, Dennis AT, Priori SG, Napolitano C, Memmi M, Wible BA, Kaufman ES, Iyengar S, Schwartz PJ, Rudy Y, Brown AM
Am J Physiol Heart Circ Physiol 2000 Oct;279(4):H1748-56.
|Other point mutations / same article||List|
|Text source||HTML full text|
|Validation status||Not yet checked|