Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
KCNJ1 | D74Y | Bartter syndrome | High | 9 | 9002665, 10049979 |
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 | KDGHCNVQFINVGEKGQ--RYLADIFTTCV>D<IRWRWMLVIFCLAFVLSWLFFGCVFWLIAL | 108 |
KCNJ1 | KDGRCNIEFGNVEA-QSRFIFFVDIWTTVL>D<LKWRYKMTIFITAFLGSWFFFGLLWYAVAY | 104 |
KCNJ3 | KNGRCNVQHGNLGSETS--RYLSDLFTTLV>D<LKWRWNLFIFILTYTVAWLFMASMWWVIAY | 107 |
KCNJ4 | KNGQCNVYFANLSNKSQ--RYMADIFTTCV>D<TRWRYMLMIFSAAFLVSWLFFGLLFWCIAF | 82 |
KCNJ5 | KSGKCNVHHGNVQ-ETY--RYLSDLFTTLV>D<LKWRFNLLVFTMVYTVTWLFFGFIWWLIAY | 113 |
KCNJ6 | KDGKCNVHHGNVR-ETY--RYLTDIFTTLV>D<LKWRFNLLIFVMVYTVTWLFFGMIWWLIAY | 116 |
KCNJ8 | KSGACNLAHKNIR-EQG--RFLQDIFTTLV>D<LKWRHTLVIFTMSFLCSWLLFAIMWWLVAF | 96 |
KCNJ9 | KDGRCNVQQGNVR-ETY--RYLTDLFTTLV>D<LQWRLSLLFFVLAYALTWLFFGAIWWLIAY | 84 |
KCNJ10 | KDGRSNVRMEHIADKRF--LYLKDLWTTFI>D<MQWRYKLLLFSATFAGTWFLFGVVWYLVAV | 91 |
KCNJ11 | KKGNCNVAHKNIR-EQG--RFLQDVFTTLV>D<LKWPHTLLIFTMSFLCSWLLFAMAWWLIAF | 95 |
KCNJ12 | KNGQCNIEFANMDEKSQ--RYLADMFTTCV>D<IRWRYMLLIFSLAFLASWLLFGIIFWVIAV | 107 |
KCNJ13 | KDGHSTLQMDGAQR-GL--AYLRDAWGILM>D<MRWRWMMLVFSASFVVHWLVFAVLWYVLAE | 80 |
KCNJ14 | KDGHCNVRFVNLGGQGA--RYLSDLFTTCV>D<VRWRWMCLLFSCSFLASWLLFGLAFWLIAS | 113 |
KCNJ15 | KSGHSNVRIDKVDGIYL--LYLQDLWTTVI>D<MKWRYKLTLFAATFVMTWFLFGVIYYAIAF | 90 |
KCNJ16 | KDGSCNVYFKHIFGEWG--SYVVDIFTTLV>D<TKWRHMFVIFSLSYILSWLIFGSVFWLIAF | 97 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D78G | c.233A>G | Inherited Arrhythmia | LQTS | rs199473371 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063 | ||
p.D78Y | c.232G>T | Inherited Arrhythmia | LQTS | rs199473372 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Am J Med Genet A. 2006 140(4):312-21. 16419128 | ||
Inherited Arrhythmia | LQTS | Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome. Cardiovasc Res. 2007 75(4):748-57. 17568571 |