Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
KCNJ10 | T57I | SeSAME syndrome | High | 9 | 22907601 |
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 | RFVKKDGHCNVQFINVGEKGQ--RYLADIF>T<TCVDIRWRWMLVIFCLAFVLSWLFFGCVFW | 104 |
KCNJ1 | RLVSKDGRCNIEFGNVEA-QSRFIFFVDIW>T<TVLDLKWRYKMTIFITAFLGSWFFFGLLWY | 100 |
KCNJ3 | RFVDKNGRCNVQHGNLGSETS--RYLSDLF>T<TLVDLKWRWNLFIFILTYTVAWLFMASMWW | 103 |
KCNJ4 | RFVKKNGQCNVYFANLSNKSQ--RYMADIF>T<TCVDTRWRYMLMIFSAAFLVSWLFFGLLFW | 78 |
KCNJ5 | RYMEKSGKCNVHHGNVQ-ETY--RYLSDLF>T<TLVDLKWRFNLLVFTMVYTVTWLFFGFIWW | 109 |
KCNJ6 | RYVRKDGKCNVHHGNVR-ETY--RYLTDIF>T<TLVDLKWRFNLLIFVMVYTVTWLFFGMIWW | 112 |
KCNJ8 | RFIAKSGACNLAHKNIR-EQG--RFLQDIF>T<TLVDLKWRHTLVIFTMSFLCSWLLFAIMWW | 92 |
KCNJ9 | RYVEKDGRCNVQQGNVR-ETY--RYLTDLF>T<TLVDLQWRLSLLFFVLAYALTWLFFGAIWW | 80 |
KCNJ10 | RVLTKDGRSNVRMEHIADKRF--LYLKDLW>T<TFIDMQWRYKLLLFSATFAGTWFLFGVVWY | 87 |
KCNJ11 | RFVSKKGNCNVAHKNIR-EQG--RFLQDVF>T<TLVDLKWPHTLLIFTMSFLCSWLLFAMAWW | 91 |
KCNJ12 | RFVKKNGQCNIEFANMDEKSQ--RYLADMF>T<TCVDIRWRYMLLIFSLAFLASWLLFGIIFW | 103 |
KCNJ13 | RMVTKDGHSTLQMDGAQR-GL--AYLRDAW>G<ILMDMRWRWMMLVFSASFVVHWLVFAVLWY | 76 |
KCNJ14 | RFVKKDGHCNVRFVNLGGQGA--RYLSDLF>T<TCVDVRWRWMCLLFSCSFLASWLLFGLAFW | 109 |
KCNJ15 | RVMSKSGHSNVRIDKVDGIYL--LYLQDLW>T<TVIDMKWRYKLTLFAATFVMTWFLFGVIYY | 86 |
KCNJ16 | RLLHKDGSCNVYFKHIFGEWG--SYVVDIF>T<TLVDTKWRHMFVIFSLSYILSWLIFGSVFW | 93 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T74A | c.220A>G | Inherited Arrhythmia | LQTS | rs199473652 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005 111(21):2720-6. 15911703 | ||
Inherited Arrhythmia | LQTS | Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. Hum Mutat. 2006 27(4):388. 16541386 | |||
Inherited Arrhythmia | LQTS | Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome. Channels (Austin). 2007 1(3):209-17. 18690034 |