Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
KCNJ1 | C49Y | Bartter syndrome | High | 9 | 10611379 |
KCNJ11 | C42R | Diabetes mellitus | High | 9 | 15784703 |
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 | AVANGF-GNGKSKVHTRQQCRSRFVKKDGH>C<NVQFINVGEKGQ--RYLADIFTTCVDIRWR | 82 |
KCNJ1 | -----W-VVT-R-FFGHSRQRARLVSKDGR>C<NIEFGNVEA-QSRFIFFVDIWTTVLDLKWR | 78 |
KCNJ3 | G--PGQ-D-PQQQLV-PKKKRQRFVDKNGR>C<NVQHGNLGSETS--RYLSDLFTTLVDLKWR | 81 |
KCNJ4 | --------NGQAHVP-RRKRRNRFVKKNGQ>C<NVYFANLSNKSQ--RYMADIFTTCVDTRWR | 56 |
KCNJ5 | V--PIATD-RTRLLAEGKKPRQRYMEKSGK>C<NVHHGNVQ-ETY--RYLSDLFTTLVDLKWR | 87 |
KCNJ6 | L--PRHIS-RDR----TKRKIQRYVRKDGK>C<NVHHGNVR-ETY--RYLTDIFTTLVDLKWR | 90 |
KCNJ8 | -----E-NLRKP-RIRDRLPKARFIAKSGA>C<NLAHKNIR-EQG--RFLQDIFTTLVDLKWR | 70 |
KCNJ9 | ---------GQE-EPPRRRGRQRYVEKDGR>C<NVQQGNVR-ETY--RYLTDLFTTLVDLQWR | 58 |
KCNJ10 | ---------R-P-LMGPGIRRRRVLTKDGR>S<NVRMEHIADKRF--LYLKDLWTTFIDMQWR | 65 |
KCNJ11 | -----E-DPAKP-RYRARQRRARFVSKKGN>C<NVAHKNIR-EQG--RFLQDVFTTLVDLKWP | 69 |
KCNJ12 | SGANGF-GNGK--VHTRRRCRNRFVKKNGQ>C<NIEFANMDEKSQ--RYLADMFTTCVDIRWR | 81 |
KCNJ13 | -----L-L---------SQRYRRMVTKDGH>S<TLQMDGAQR-GL--AYLRDAWGILMDMRWR | 54 |
KCNJ14 | GWAPAP-VQS----P-VGRRRGRFVKKDGH>C<NVRFVNLGGQGA--RYLSDLFTTCVDVRWR | 87 |
KCNJ15 | ---------T-A-GAGLKANRPRVMSKSGH>S<NVRIDKVDGIYL--LYLQDLWTTVIDMKWR | 64 |
KCNJ16 | ----GY-PPEH-IIAEKRRARRRLLHKDGS>C<NVYFKHIFGEWG--SYVVDIFTTLVDTKWR | 71 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C54F | c.161G>T | Inherited Arrhythmia | LQTS | rs199473650 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. Hum Mol Genet. 2007 16(8):900-6. 17324964 | ||
Other Disease Phenotype | Glucocorticoids may trigger attacks in several types of periodic paralysis. Neuromuscul Disord. 2009 19(3):217-9. 19201608 | ||||
Inherited Arrhythmia | LQTS | Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. Europace. 2013 23867365 |