KChannelDB: Extraction of mutation data from the literature

2005, KChannelDB.

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 Y493C 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.

Point mutation Y493C in KCNH2_HUMAN

Point mutation:	Y493C
Domain:	Loop 2-3
General numbering (KChannelDB):	-
Protein:	KCNH2_HUMAN (KCNH2,ERG, ERG1, HERG, HERG)	Swiss-Prot Cross-reference table Family page
Protein isoforms	4
Other point mutations / same protein	List of mutations in KCNH2_HUMAN
Family alignments	eag related KCNH (Kv10-12) K+ voltage-gated channels (Kv1-12,Kca2-5) Potassium channels 6 TMs
Other point mutations / same position	Position 477 in K+ voltage-gated channels (Kv1-12,Kca2-5) family Position 251 in Potassium channels 6 TMs family
Reference:	Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. Lupoglazoff JM, Denjoy I, Villain E, Fressart V, Simon F, Bozio A, Berthet M, Benammar N, Hainque B, Guicheney P J Am Coll Cardiol 2004 Mar 3;43(5):826-30.	Medline
Other point mutations / same article	List
Text source	PDF full text
Validation status	Not yet checked

Relevant sentences:

Y493C

Clinical and Genetic Characteristics of Neonates With 2:1 Atrioventricular Block Patient Number / Gender Circumstances of Diagnosis ECG QTc (ms) AR / VR (beats / min) Initial Therapy Outcome Follow-Up Genotype 1 / M Syncope 620 Propranolol and PM Death at -->weeks of No DNA 110 / 55 sepsis 2 / M Fetal bradycardia 520 Propranolol AS at 14 years No mutation identified 120 / 60 3 / M Syncope 630 Acebutolol AS at 10 years No DNA 120 / 60 4 / F Fetal bradycardia , TDP 530 Propranolol Lost to follow-up at No DNA 150 / 75 9 months 5 / M Neonatal bradycardia 640 Propranolol and PM AS at 17 years No DNA 120 / 60 6 / F Fetal bradycardia , TDP 560 None SD at 1 month No DNA 120 / 60 7 / M Heart failure 560 Propranolol and PM SD at 9 days , HERG G604S by MT 120 / 60 -->days after withdrawal 8 / F Fetal bradycardia , collapse 580 Propranolol and PM AS without PM at HERG T613M by MT TDP 140 / 70 23 years 9 / M Neonatal bradycardia 520 Propranolol AS at 21 years HERG T613M by MT 120 / 60 10 / F Fetal bradycardia , VF , 527 Propranolol and PM AS without PM at HERG S621N by MT cardiac arrest at day 1 140 / 70 10 years 11 / F Neonatal bradycardia 490 Propranolol and PM AS at 1 year HERG D501N by MT 140 / 70 12 / M Fetal arrhythmia , collapse 700 Propranolol 10-year runs of KCNQ1 R555H , TDP , VT 90 / 45 TDP under nadolol and PM HERG R835W , SCN5A L619F 13 / F Neonatal bradycardia , 600 Propranolol and PM AS at 6 months HERG M645V heart failure , collapse , VT 100 / 50 (de novo mutation) 14 / F Fetal bradycardia , TDP , 544 Propranolol and PM AS at -->months HERG G628S heart failure 140 / 70 (de novo mutation) 15 / M Fetal bradycardia 680 Propranolol and PM AS without PM at HERG Y493C 110 / 55 9 years (de novo mutation) AR atrial rate ; AS asymptomatic ; AVB atrioventricular block ; ECG electrocardiographic ; F female ; M male ; MT maternal transmission ; PM pacemaker ; QTc corrected QT interval ; SD sudden death ; TDP torsades de pointes ; VF ventricular fibrillation ; VR ventricular rate ; VT ventricular tachycardia

F.Horn (kchanneldbcmbi.ru.nl), 17-Aug-2005