Paralogue Annotation for KCNJ2 residue 103

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 103
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 103

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ1	W99C	Bartter syndrome	Medium	9	9002665

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 KCNJ2.

KCNJ2	FTTCVDIRWRWMLVIFCLAFVLSWLFFGCV>F<WLIALLHGDLDAS-----------------	116
KCNJ1	WTTVLDLKWRYKMTIFITAFLGSWFFFGLL>W<YAVAYIHKDLPEF--HP-------------	114
KCNJ3	FTTLVDLKWRWNLFIFILTYTVAWLFMASM>W<WVIAYTRGDLNKA--HV-------------	117
KCNJ4	FTTCVDTRWRYMLMIFSAAFLVSWLFFGLL>F<WCIAFFHGDLEAS--PGVPAAGGPAAGGGG	105
KCNJ5	FTTLVDLKWRFNLLVFTMVYTVTWLFFGFI>W<WLIAYIRGDLDHV--GD-------------	123
KCNJ6	FTTLVDLKWRFNLLIFVMVYTVTWLFFGMI>W<WLIAYIRGDMDHI--ED-------------	126
KCNJ8	FTTLVDLKWRHTLVIFTMSFLCSWLLFAIM>W<WLVAFAHGDIYAY--MEKS--G------ME	111
KCNJ9	FTTLVDLQWRLSLLFFVLAYALTWLFFGAI>W<WLIAYGRGDLEHL--ED-------------	94
KCNJ10	WTTFIDMQWRYKLLLFSATFAGTWFLFGVV>W<YLVAVAHGDLLEL--DP-------------	101
KCNJ11	FTTLVDLKWPHTLLIFTMSFLCSWLLFAMA>W<WLIAFAHGDLAP----S-E-----------	104
KCNJ12	FTTCVDIRWRYMLLIFSLAFLASWLLFGII>F<WVIAVAHGDLEPA--EG-------------	117
KCNJ13	WGILMDMRWRWMMLVFSASFVVHWLVFAVL>W<YVLAEMNGDLELDHDAP-------------	92
KCNJ14	FTTCVDVRWRWMCLLFSCSFLASWLLFGLA>F<WLIASLHGDLAAP--P--------------	122
KCNJ15	WTTVIDMKWRYKLTLFAATFVMTWFLFGVI>Y<YAIAFIHGDLEPG--EP-------------	100
KCNJ16	FTTLVDTKWRHMFVIFSLSYILSWLIFGSV>F<WLIAFHHGDLLND--P--------------	106
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

There are currently no reported variants at residue 103 for KCNJ2.