Paralogue Annotation for KCNH2 residue 1084

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1084
Reference Amino Acid: P - Proline
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 1084

No paralogue variants have been mapped to residue 1084 for KCNH2.

KCNH2	------------LLQRQMTLVPPAYSAVTT>P<------------------------GPGPTS	1090
KCNH1	------------LDNVGEARSPQDRSPILA>E<VKHSF-------------YPIPEQTLQATV	926
KCNH3	------------MREGLQSLRQAVQLVLAP>H<REGP-------------CPRAS-----GEG	925
KCNH4	------------LSRELRHIMGLLQARLGP>P<------------------GHPAGSAWTPDP	927
KCNH5	------------LDKAGEARSPLEHSPIQA>D<AKHPF-------------YPIPEQALQTTL	910
KCNH6	------------KHRNSSPRMP--HLAVAT>D<------------------------KTLAPS	932
KCNH7	------------LLQKQTTVVPPAYSMVTA>G<SEYQR-------------PIIQLMRTSQPE	1094
KCNH8	------------LGKDMRNVIQLLENVLSP>Q<QPSRFCSLHSTSVCPSRESLQTRTSWSAHQ	932
CNGA1	------------------------------>-<------------------------------
CNGA2	------------------------------>-<------------------------------
CNGA3	------------------------------>-<------------------------------
CNGA4	------------------------------>-<------------------------------
CNGB1	------------------------------>-<-----------------------LGRPEGE	1211
CNGB3	------------------------------>-<-----------------------VRR----	772
HCN1	STLISRPHPTVG----ESLASIPQPVTAVP>G<TGLQ-----------------AG----G--	831
HCN2	PGPAASTRPAS------------------->-<---------------------------S--	843
HCN3	TGDGSPGRKGS------------------->-<---------------------------G--	735
HCN4	AQTLRRASPHSSGESMAAFPLFPRAGGGSG>G<SGS------------------------S--	1132
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1084R	c.3251C>G	Putative Benign			SIFT: Polyphen:
p.P1084L	c.3251C>T	Putative Benign			SIFT: Polyphen: