Paralogue Annotation for KCNH2 residue 18

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 18
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 18

No paralogue variants have been mapped to residue 18 for KCNH2.

KCNH2	-----------RR----G-HVAPQNTFLDT>I<---IR----KFEGQSRK-----------FI	30
KCNH1	-----------RR----G-LVAPQNTFLEN>I<---VR----RS--NDTN-----------FV	31
KCNH3	-----------MR----G-LLAPQNTFLDT>I<---AT----RFDGTHSN-----------FV	30
KCNH4	-----------MK----G-LLAPQNTFLDT>I<---AT----RFDGTHSN-----------FL	30
KCNH5	-----------KR----G-LVAPQNTFLEN>I<---VR----RS--SESS-----------FL	29
KCNH6	-----------RR----G-HVAPQNTYLDT>I<---IR----KFEGQSRK-----------FL	30
KCNH7	-----------RR----G-HVAPQNTFLGT>I<---IR----KFEGQNKK-----------FI	30
KCNH8	-----------MK----G-LLAPQNTFLDT>I<---AT----RFDGTHSN-----------FI	30
CNGA1	-----------SMK---NNIINTQQSFVTM>P<NVIVP----DIEKE------------I---	31
CNGA2	-----------K--------TNGVK----->-<--SSP----AN-------------------	14
CNGA3	--------------------INTQY----->-<--SHP----SRTH-------------L---	16
CNGA4	------------------------------>-<------------------------------
CNGB1	PPEESFKEEEVAV-----ADPSPQETKEAA>L<---TSTISLRAQGAEISEMNSPSRRVLTWL	106
CNGB3	------------------------------>-<------------------------------
HCN1	-----------G------------------>-<----------GKPNS---------------	9
HCN2	----------------------------RG>-<----G----GGRPGE---------------	12
HCN3	-----------E------------------>-<----------QRPAA---------------	9
HCN4	-----------LPPSMRKRLYSLPQQVGAK>-<----A----WIMDEE---------------	29
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I18M	c.54C>G	Putative Benign			SIFT: Polyphen: