| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ1 | A177T | Bartter syndrome | High | 9 | 12911542 |
| KCNJ10 | T164I | SeSAME syndrome | Medium | 9 | 19289823, 20678478, 20807765, 21088294 |
| KCNJ11 | C166Y | Diabetes, permanent neonatal | Medium | 9 | 16609879 |
| KCNJ11 | C166F | Diabetes, neonatal | Medium | 9 | 16123337 |
| KCNJ8 | C176S | Cantú syndrome | Medium | 9 | 24700710, 24700710 |
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 | RCVTDECPIAVFMVVFQSIVGCIIDAFIIG>A<VMAKMAKPKKRNETLVFSHNAVIAMRDGKL | 208 |
| KCNJ1 | RCVTEQCATAIFLLIFQSILGVIINSFMCG>A<ILAKISRPKKRAKTITFSKNAVISKRGGKL | 207 |
| KCNJ3 | RYITDKCPEGIILFLFQSILGSIVDAFLIG>C<MFIKMSQPKKRAETLMFSEHAVISMRDGKL | 209 |
| KCNJ4 | RCVTEECPLAVIAVVVQSIVGCVIDSFMIG>T<IMAKMARPKKRAQTLLFSHHAVISVRDGKL | 200 |
| KCNJ5 | RVITEKCPEGIILLLVQAILGSIVNAFMVG>C<MFVKISQPKKRAETLMFSNNAVISMRDEKL | 215 |
| KCNJ6 | RVITDKCPEGIILLLIQSVLGSIVNAFMVG>C<MFVKISQPKKRAETLVFSTHAVISMRDGKL | 218 |
| KCNJ8 | RMMTEECPLAITVLILQNIVGLIINAVMLG>C<IFMKTAQAHRRAETLIFSRHAVIAVRNGKL | 206 |
| KCNJ9 | RVITDQCPEGIVLLLLQAILGSMVNAFMVG>C<MFVKISQPNKRAATLVFSSHAVVSLRDGRL | 186 |
| KCNJ10 | RYISEECPLAIVLLIAQLVLTTILEIFITG>T<FLAKIARPKKRAETIRFSQHAVVASHNGKP | 194 |
| KCNJ11 | RMVTEECPLAILILIVQNIVGLMINAIMLG>C<IFMKTAQAHRRAETLIFSKHAVIALRHGRL | 196 |
| KCNJ12 | RCVTEECPVAVFMVVAQSIVGCIIDSFMIG>A<IMAKMARPKKRAQTLLFSHNAVVALRDGKL | 209 |
| KCNJ13 | MFPSGDCPSAIALLAIQMLLGLMLEAFITG>A<FVAKIARPKNRAFSIRFTDTAVVAHMDGKP | 185 |
| KCNJ14 | RSVTEECPAAVAAVVLQCIAGCVLDAFVVG>A<VMAKMAKPKKRNETLVFSENAVVALRDHRL | 213 |
| KCNJ15 | RSITEECPHAIFLLVAQLVITTLIEIFITG>T<FLAKIARPKKRAETIKFSHCAVITKQNGKL | 193 |
| KCNJ16 | RCVTEECSVAVLMVILQSILSCIINTFIIG>A<ALAKMATARKRAQTIRFSYFALIGMRDGKL | 197 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A178T | c.532G>A | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | BrS | Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PLoS One. 2015 10(7):e0133037. doi: 10.1371/journal.pone.0133037. 26230511 | ||