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 T436M 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 T436M in KCNH2_HUMAN

Point mutation:	T436M
Domain:	Loop 1-2
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 425 in K+ voltage-gated channels (Kv1-12,Kca2-5) family Position 206 in Potassium channels 6 TMs family
Reference:	Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Moss AJ, Zareba W, Kaufman ES, Gartman E, Peterson DR, Benhorin J, Towbin JA, Keating MT, Priori SG, Schwartz PJ, Vincent GM, Robinson JL, Andrews ML, Feng C, Hall WJ, Medina A, Zhang L, Wang Z Circulation 2002 Feb 19;105(7):794-9.	Medline
Other point mutations / same article	List
Text source	PDF full text
Validation status	Not yet checked

Relevant sentences:

T436M

of Subjects Exon Type Functional Effect in Expression Studies Pore Region L552S 4 7 missense A561V* 6 7 missense dominant negative12 , 13 A561T 2 7 missense P596L 2 7 missense 593stop 1 7 nonsense G604S 2 7 missense D609N 5 7 missense T613M 1 7 missense dominant negative14 A614V* --> 7 missense dominant negative15 F627L 1 7 missense G628S* 2 7 missense dominant negative5 , 16 N629S 2 7 missense V630A 1 7 missense K638E --> 7 missense Subtotal 35 Nonpore regions N-terminus region S26I 2 2 missense F29L 1 2 missense 1 rate of deactivation17 N33T 1 2 missense 1 rate of deactivation17 C44stop 1 2 nonsense G47V 8 2 missense R56Q 8 2 missense 1 rate of deactivation17 C66G 1 2 missense 1 rate of deactivation17 H70R 1 2 missense 1 rate of deactivation17 P72Q* 7 2 missense A78P 1 2 missense 1 rate of deactivation17 fsA83 / 37aa 1 2 frameshift L86R 7 2 missense 1 rate of deactivation17 M124R 17 --> missense 1 rate of deactivation fsV295 / 63aa 2 4 frameshift Subtotal 58 Transmembrane domains other than pore region Q376splice 1 6 splice site S428stop 1 6 nonsense S428L 1 6 missense T436M 1 6 missense Subtotal 4 C-terminus region R744stop 2 9 nonsense R752W* 33 9 missense trafficking abnormality18 L799splice 5 9 splice site F805C 11 10 missense trafficking abnormality§ V822M 18 10 missense trafficking abnormality16 R823W 8 10 missense N861I --> 10 missense P917L 1 12 missense R920fs 1 12 frameshift fsGly925 1 12 frameshift fsP968 / 4aa 1 12 frameshift W1001stop 20 13 nonsense assembly abnormality§ Subtotal 104 *Mutation present in 2 separate families ; -->separate families

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