Paralogue Annotation for KCNH2 residue 127

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 127
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 127

No paralogue variants have been mapped to residue 127 for KCNH2.

KCNH2	--------------PVK---NEDGAVIMFI>L<NFEVVMEKDM-VG-----------------	139
KCNH1	--------------PIR---NEQDKVVLFL>C<TFSDITAFKQ-PI-----------------	140
KCNH3	--------------PIK---NEKGEVALFL>V<SHKDISETK-NRG-----------------	140
KCNH4	--------------PIK---NEMGEVVLFL>F<SFKDITQSGSPGL-----------------	141
KCNH5	--------------PIR---NEHEKVVLFL>C<TFKDITLFKQ-PI-----------------	138
KCNH6	--------------PVK---NEDGAVIMFI>L<NFEDLAQL----------------------	135
KCNH7	--------------PVK---NQEGVAMMFI>I<NFEYVTDNEN-AA-----------------	139
KCNH8	--------------PIK---NEKGDVVLFL>A<SFKDITDTK-VKI-----------------	140
CNGA1	--------------PSQREQYLPGAIALFN>V<NNSSNKDQ----------------------	100
CNGA2	---------------FRRIVRLVGIIREWA>N<KNFREEEP----------------------	89
CNGA3	---------------IARLSRLIFLLRRWA>A<RHVHHQDQ----------------------	93
CNGA4	------------------------------>-<------DT----------------------	5
CNGB1	HRLEMALPQPVLHGKIG---EQEPDSPGIC>D<VQTISILPGG---QVEPDLVLEEVEPPWED	315
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.Leu127Phe	c.379C>T	Unknown			SIFT: Polyphen: