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 N470D 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):||245|
|Protein:||KCNH2_HUMAN (KCNH2,ERG, ERG1, HERG, HERG)||Swiss-Prot|
|Other point mutations / same protein / same position||Point mutations at position 470 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 470 in eag related KCNH (Kv10-12) family |
Position 454 in K+ voltage-gated channels (Kv1-12,Kca2-5) family
Position 240 in Potassium channels 6 TMs 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|