Paralogue Annotation for KCNH2 residue 128

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 128
Reference Amino Acid: N - Asparagine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 128

No paralogue variants have been mapped to residue 128 for KCNH2.

KCNH2	-------------PVK---NEDGAVIMFIL>N<FEVVMEKDM-VG------------------	139
KCNH1	-------------PIR---NEQDKVVLFLC>T<FSDITAFKQ-PI------------------	140
KCNH3	-------------PIK---NEKGEVALFLV>S<HKDISETK-NRG------------------	140
KCNH4	-------------PIK---NEMGEVVLFLF>S<FKDITQSGSPGL------------------	141
KCNH5	-------------PIR---NEHEKVVLFLC>T<FKDITLFKQ-PI------------------	138
KCNH6	-------------PVK---NEDGAVIMFIL>N<FEDLAQL-----------------------	135
KCNH7	-------------PVK---NQEGVAMMFII>N<FEYVTDNEN-AA------------------	139
KCNH8	-------------PIK---NEKGDVVLFLA>S<FKDITDTK-VKI------------------	140
CNGA1	-------------PSQREQYLPGAIALFNV>N<NSSNKDQ-----------------------	100
CNGA2	--------------FRRIVRLVGIIREWAN>K<NFREEEP-----------------------	89
CNGA3	--------------IARLSRLIFLLRRWAA>R<HVHHQDQ-----------------------	93
CNGA4	------------------------------>-<-----DT-----------------------	5
CNGB1	RLEMALPQPVLHGKIG---EQEPDSPGICD>V<QTISILPGG---QVEPDLVLEEVEPPWEDA	316
CNGB3	------------------------------>-<------------------------------
HCN1	------------------------------>-<--GGGGGGG-GGG-----------------	72
HCN2	------------------------------>-<--GAASGPA-PGP-----------------	138
HCN3	------------------------------>-<--TAASGPI-PKS-----------------	40
HCN4	------------------------------>-<--QPSVDTA-IKV-----------------	190
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N128S	c.383A>G	Putative Benign		rs200343670	SIFT: deleterious Polyphen: benign