No paralogue variants have been mapped to residue 172 for KCNJ2.
| KCNJ2 | TIGYGFRCVTDECPIAVFMVVFQSIVGCII>D<AFIIGAVMAKMAKPKKRNETLVFSHNAVIA | 202 |
| KCNJ1 | TIGYGFRCVTEQCATAIFLLIFQSILGVII>N<SFMCGAILAKISRPKKRAKTITFSKNAVIS | 201 |
| KCNJ3 | TIGYGYRYITDKCPEGIILFLFQSILGSIV>D<AFLIGCMFIKMSQPKKRAETLMFSEHAVIS | 203 |
| KCNJ4 | TIGYGFRCVTEECPLAVIAVVVQSIVGCVI>D<SFMIGTIMAKMARPKKRAQTLLFSHHAVIS | 194 |
| KCNJ5 | TIGYGFRVITEKCPEGIILLLVQAILGSIV>N<AFMVGCMFVKISQPKKRAETLMFSNNAVIS | 209 |
| KCNJ6 | TIGYGYRVITDKCPEGIILLLIQSVLGSIV>N<AFMVGCMFVKISQPKKRAETLVFSTHAVIS | 212 |
| KCNJ8 | TIGFGGRMMTEECPLAITVLILQNIVGLII>N<AVMLGCIFMKTAQAHRRAETLIFSRHAVIA | 200 |
| KCNJ9 | TIGYGHRVITDQCPEGIVLLLLQAILGSMV>N<AFMVGCMFVKISQPNKRAATLVFSSHAVVS | 180 |
| KCNJ10 | TIGYGFRYISEECPLAIVLLIAQLVLTTIL>E<IFITGTFLAKIARPKKRAETIRFSQHAVVA | 188 |
| KCNJ11 | TIGFGGRMVTEECPLAILILIVQNIVGLMI>N<AIMLGCIFMKTAQAHRRAETLIFSKHAVIA | 190 |
| KCNJ12 | TIGYGLRCVTEECPVAVFMVVAQSIVGCII>D<SFMIGAIMAKMARPKKRAQTLLFSHNAVVA | 203 |
| KCNJ13 | TIGYGTMFPSGDCPSAIALLAIQMLLGLML>E<AFITGAFVAKIARPKNRAFSIRFTDTAVVA | 179 |
| KCNJ14 | SIGYGVRSVTEECPAAVAAVVLQCIAGCVL>D<AFVVGAVMAKMAKPKKRNETLVFSENAVVA | 207 |
| KCNJ15 | TIGYGVRSITEECPHAIFLLVAQLVITTLI>E<IFITGTFLAKIARPKKRAETIKFSHCAVIT | 187 |
| KCNJ16 | TIGYGYRCVTEECSVAVLMVILQSILSCII>N<TFIIGAALAKMATARKRAQTIRFSYFALIG | 191 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D172N | c.514G>A | Inherited Arrhythmia | SQTS | rs104894584 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | SQTS | A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res. 2005 96(7):800-7. 15761194 | ||
| Inherited Arrhythmia | SQTS | Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling. Cardiovasc Res. 2012 94(1):66-76. 22308236 | |||