Paralogue Annotation for KCNH2 residue 334

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 334
Reference Amino Acid: P - Proline
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 334

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGB3	K148E	Achromatopsia	Low	1	12357335

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.

KCNH2	AMHPLRSGLLNSTSDSDLVRYR---TISKI>P<QITLNFVDLKGDPFLASP-T-SDREII-AP	361
KCNH1	-------------------KFA-------->-<---------RLTRALTSS-R-GVLQQL-AP	170
KCNH3	--------------------S--------->-<--------KGFNANRRRS-R-AVLYHL-SG	179
KCNH4	--------------------A--------->-<-------TWKFRSARRRS-R-TVLHRL-TG	181
KCNH5	-------------------KFA-------->-<---------RLTRALTNS-R-SVLQQL-TP	168
KCNH6	---------------TGRGKYR---TISQI>P<QFTLNFVEFNLEKHRSSS-T-TEIEII-AP	209
KCNH7	PFNHIKSSLLGSTSDSNLNKYS---TINKI>P<QLTLNFSEVKTEKKNSSPPS-SDKTII-AP	361
KCNH8	--------------------A--------->-<-------GTHFDSARRRS-R-AVLYHI-SG	176
CNGA1	------------------------------>-<-----KKK-KKKEKKSKS-D-DKNENKNDP	126
CNGA2	------------------------------>-<-----FLE-RFRGPELQT-V-TTQEGDGKG	115
CNGA3	------------------------------>-<-----FPD-RFRGAELKE-V-SSQESNAQ-	118
CNGA4	------------------------------>-<--------------KVKT-T-ES-------	12
CNGB1	STASTNSAIINDRLQELVKLFKERTEKV-K>E<KLIDPDVTSDEE-SPKPSPA-KKAPEP-AP	611
CNGB3	PAAPVINEYADAQLHNLVKRMRQRTALY-K>K<KLVEGDLSS-----PEASPQ-TAKPTA-VP	171
HCN1	------------------------------>-<---------EDAEGPR-R-QYGFMQRQ--F	98
HCN2	------------------------------>-<---------PAGEPRG-S-QASFMQRQ--F	167
HCN3	------------------------------>-<---------PE------P-----KRRH--L	49
HCN4	------------------------------>-<---------PEAEVRL-G-QAGFMQRQ--F	218
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P334L	c.1001C>T	Inherited Arrhythmia	LQTS	rs199472888	SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472