KCNQ1 Paralogue Annotation
This page details the annotation of KCNQ1 with disease causing variants in the following paralogues: KCNQ2, KCNV2, KCNA5, KCNA1, KCNQ4, KCNC3, KCNQ3, KCND3, KCNS1, KCND2, KCNB1, KCNB2, KCNA2, KCNC1, KCNS2. Click here to see the multiple sequence alignment of KCNQ1 with all paralogues.
The paralogue variant mappings to KCNQ1 are based on the Locus Reference Genomic entry for KCNQ1 - LRG_287. This is based on the transcript ENST00000155840 and protein ENSP00000155840 (676 amino acids) for the Ensembl gene ENSG00000053918.
- Paralogue Annotations
- Known KCNQ1 Variants
- All Variants and Paralogue Annotations
Amino acid residues of KCNQ1 with known missense variants are shown below, along with details about the KCNQ1 protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), and any disease-causing paralogue missense variants that have been mapped to the residue, including the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known KCNQ1 variants and the mapped paralogue variants.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 1-M | N-terminus | Arrhythmia (3) | ||
| 2-A | N-terminus | Arrhythmia (2) | ||
| 3-A | N-terminus | None | ||
| 7-P | N-terminus | Arrhythmia (3) | 1 | KCNQ2 - Epilepsy, benign neonatal |
| 10-A | N-terminus | None | ||
| 14-R | N-terminus | Arrhythmia (1) | ||
| 22-G | N-terminus | None | ||
| 27-S | N-terminus | None | ||
| 28-A | N-terminus | Prob. Benign (0) | ||
| 46-A | N-terminus | Arrhythmia (7) | 7 | KCNC3 - Spinocerebellar ataxia 13 |
| 51-Y | N-terminus | Other Cardiac (1) | ||
| 57-G | N-terminus | Arrhythmia (2) | 9 | KCNA5 - Pulmonary arterial hypertension |
| 58-A | N-terminus | Arrhythmia (1) | ||
| 62-A | N-terminus | None | ||
| 64-P | N-terminus | Prob. Benign (0) | ||
| 65-A | N-terminus | Prob. Benign (0) | ||
| 66-S | N-terminus | Arrhythmia (1) | ||
| 70-P | N-terminus | None | ||
| 71-A | N-terminus | Prob. Benign (0) | 8 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 73-P | N-terminus | Arrhythmia (5) | ||
| 76-A | N-terminus | Prob. Benign (0) | ||
| 77-S | N-terminus | Prob. Benign (0) | ||
| 81-P | N-terminus | Prob. Benign (0) | ||
| 83-P | N-terminus | Prob. Benign (0) | ||
| 84-P | N-terminus | None | ||
| 86-S | N-terminus | Prob. Benign (0) | ||
| 89-P | N-terminus | Prob. Benign (0) | 5 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 92-S | N-terminus | Prob. Benign (0) | ||
| 93-I | N-terminus | Prob. Benign (0) | ||
| 94-Y | N-terminus | Prob. Benign (0) | ||
| 96-T | N-terminus | Arrhythmia (1) | ||
| 98-R | N-terminus | Prob. Benign (0) | ||
| 99-P | N-terminus | Other Cardiac (1) | ||
| 104-T | N-terminus | Prob. Benign (0) | 3 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 105-H | N-terminus | Arrhythmia (1) | ||
| 107-Q | N-terminus | None | 7 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 109-R | N-terminus | Prob. Benign (0) | ||
| 110-V | N-terminus | Arrhythmia (4) | ||
| 111-Y | N-terminus | Arrhythmia (9) | ||
| 114-L | N-terminus | Arrhythmia (3) | ||
| 115-E | N-terminus | Arrhythmia (1) | ||
| 116-R | N-terminus | None | ||
| 117-P | N-terminus | Arrhythmia (4) | ||
| 119-G | N-terminus | Arrhythmia (2) | 9 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 122-C | Transmembrane/Linker/Pore | Arrhythmia (3) | 8 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 125-Y | Transmembrane/Linker/Pore | None | ||
| 126-H | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 127-F | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 129-V | Transmembrane/Linker/Pore | Prob. Benign (2) | ||
| 131-L | Transmembrane/Linker/Pore | None | ||
| 132-I | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 133-V | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | KCNA1 - Episodic ataxia / myokymia |
| 134-L | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 136-C | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 137-L | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 140-S | Transmembrane/Linker/Pore | Arrhythmia (11) | 9 | KCNA1 - Episodic ataxia / myokymia |
| 141-V | Transmembrane/Linker/Pore | Arrhythmia (7) | 9 | KCNA1 - Episodic ataxia 1 |
| 143-S | Transmembrane/Linker/Pore | None | ||
| 144-T | Transmembrane/Linker/Pore | Arrhythmia (4) | 9 | KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, early-onset |
| 145-I | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 146-E | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 147-Q | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 150-A | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 153-T | Transmembrane/Linker/Pore | Arrhythmia (5) | ||
| 157-F | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 160-E | Transmembrane/Linker/Pore | Arrhythmia (6) | ||
| 162-V | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 165-V | Transmembrane/Linker/Pore | Other Cardiac (1) | ||
| 166-F | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 168-G | Transmembrane/Linker/Pore | Arrhythmia (22) | ||
| 169-T | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 170-E | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 171-Y | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 172-V | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 173-V | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 174-R | Transmembrane/Linker/Pore | Arrhythmia (15) | 9 | KCNA1 - Episodic ataxia / myokymia KCNQ2 - Infantile spasms KCNV2 - Cone dystrophy with supernormal rod ERG |
| 178-A | Transmembrane/Linker/Pore | Arrhythmia (9) | ||
| 179-G | Transmembrane/Linker/Pore | Arrhythmia (5) | ||
| 181-R | Transmembrane/Linker/Pore | Prob. Benign (2) | ||
| 183-K | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 184-Y | Transmembrane/Linker/Pore | Arrhythmia (8) | 8 | KCNQ2 - Seizures, benign neonatal-infantile |
| 185-V | Transmembrane/Linker/Pore | Prob. Benign (0) | 8 | KCNV2 - Cone dystrophy with supernormal rod ERG ? |
| 186-G | Transmembrane/Linker/Pore | Arrhythmia (7) | 8 | KCNA1 - Epilepsy partial and myokymia |
| 187-L | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 188-W | Transmembrane/Linker/Pore | Prob. Benign (0) | 8 | KCNA1 - Myokymia |
| 189-G | Transmembrane/Linker/Pore | Arrhythmia (12) | 8 | KCNQ2 - Epilepsy, benign neonatal, Seizures, benign neonatal |
| 190-R | Transmembrane/Linker/Pore | Arrhythmia (22) | ||
| 191-L | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 192-R | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 193-F | Transmembrane/Linker/Pore | Arrhythmia (2) | 9 | KCNA1 - Episodic ataxia / myokymia KCNV2 - Cone dystrophy with supernormal rod ERG |
| 194-A | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 195-R | Transmembrane/Linker/Pore | Arrhythmia (5) | ||
| 196-K | Transmembrane/Linker/Pore | None | ||
| 197-P | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 198-I | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 199-S | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | KCNA1 - Hypomagnesemia |
| 200-I | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 202-D | Transmembrane/Linker/Pore | Arrhythmia (11) | ||
| 203-L | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 204-I | Transmembrane/Linker/Pore | Arrhythmia (8) | ||
| 205-V | Transmembrane/Linker/Pore | Arrhythmia (7) | 9 | KCNQ2 - Epileptic encephalopathy, early-onset, West syndrome |
| 206-V | Transmembrane/Linker/Pore | Prob. Benign (0) | 9 | KCNA1 - Episodic ataxia, Episodic ataxia 1 KCNA2 - Epileptic encephalopathy KCNQ4 - Deafness, autosomal dominant 2 |
| 207-V | Transmembrane/Linker/Pore | Conflict (6) | ||
| 208-A | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 209-S | Transmembrane/Linker/Pore | Arrhythmia (5) | ||
| 210-M | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 214-C | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 215-V | Transmembrane/Linker/Pore | Arrhythmia (6) | ||
| 217-S | Transmembrane/Linker/Pore | None | ||
| 218-K | Transmembrane/Linker/Pore | Other Cardiac (1) | ||
| 219-G | Transmembrane/Linker/Pore | Prob. Benign (0) | 4 | KCNQ2 - Epileptic encephalopathy, early-onset |
| 220-Q | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 224-T | Transmembrane/Linker/Pore | Arrhythmia (1) | 6 | KCNA2 - Epileptic encephalopathy, early onset |
| 225-S | Transmembrane/Linker/Pore | Arrhythmia (14) | ||
| 226-A | Transmembrane/Linker/Pore | Arrhythmia (2) | 8 | KCNQ2 - Epilepsy, benign neonatal KCNV2 - Cone dystrophy, autosomal recessive |
| 227-I | Transmembrane/Linker/Pore | None | ||
| 229-G | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | KCNV2 - Cone dystrophy, autosomal recessive |
| 231-R | Transmembrane/Linker/Pore | Arrhythmia (12) | 9 | KCNA2 - Ataxia & myoclonic epilepsy KCNQ2 - Epileptic encephalopathy, early onset, Epileptic encephalopathy, neonatal KCNQ3 - Intellectual disability, Intellectual disability, nonsyndromic |
| 233-L | Transmembrane/Linker/Pore | Prob. Benign (0) | 9 | KCNQ2 - Epileptic encephalopathy, early-onset |
| 234-Q | Transmembrane/Linker/Pore | None | 9 | KCNC3 - Spinocerebellar ataxia 13 |
| 235-I | Transmembrane/Linker/Pore | Arrhythmia (7) | 9 | KCNA1 - Episodic ataxia KCNQ2 - Epileptic encephalopathy, neonatal |
| 236-L | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 238-M | Transmembrane/Linker/Pore | Prob. Benign (0) | 9 | KCNQ2 - Epilepsy, benign neonatal |
| 239-L | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 240-H | Transmembrane/Linker/Pore | Prob. Benign (0) | 9 | KCNQ2 - Epileptic encephalopathy, early-onset, Epileptic encephalopathy, neonatal |
| 241-V | Transmembrane/Linker/Pore | Arrhythmia (4) | 9 | KCNA1 - Episodic ataxia KCNQ4 - Hearing loss |
| 242-D | Transmembrane/Linker/Pore | Arrhythmia (7) | 9 | KCNC3 - Cerebral palsy, ataxic KCNQ2 - Epilepsy, benign neonatal |
| 243-R | Transmembrane/Linker/Pore | Arrhythmia (32) | 9 | KCNA1 - Episodic ataxia 1 KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, neonatal |
| 245-G | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | KCNQ2 - Epileptic encephalopathy, neonatal |
| 248-W | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 249-R | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 250-L | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | KCNA1 - Episodic ataxia / myokymia |
| 251-L | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 252-G | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 253-S | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 254-V | Transmembrane/Linker/Pore | Arrhythmia (21) | 9 | KCNQ4 - Hearing loss, non-syndromic, autosomal dominant |
| 258-H | Transmembrane/Linker/Pore | Arrhythmia (5) | 9 | KCNQ2 - Epilepsy, benign neonatal KCNQ4 - Hearing loss, non-syndromic |
| 259-R | Transmembrane/Linker/Pore | Arrhythmia (23) | ||
| 261-E | Transmembrane/Linker/Pore | Arrhythmia (14) | 9 | KCNA1 - Episodic ataxia / myokymia KCNQ2 - Epileptic encephalopathy, neonatal |
| 262-L | Transmembrane/Linker/Pore | Arrhythmia (2) | 9 | KCNC3 - Spinocerebellar ataxia 13 |
| 264-T | Transmembrane/Linker/Pore | Prob. Benign (0) | 9 | KCNQ2 - Epileptic encephalopathy, neonatal |
| 265-T | Transmembrane/Linker/Pore | Arrhythmia (2) | 9 | KCNA1 - Episodic ataxia |
| 266-L | Transmembrane/Linker/Pore | Arrhythmia (10) | ||
| 267-Y | Transmembrane/Linker/Pore | None | 9 | KCNQ2 - Epileptic encephalopathy, early infantile |
| 268-I | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 269-G | Transmembrane/Linker/Pore | Arrhythmia (23) | 9 | KCNQ2 - Epileptic encephalopathy, early-onset |
| 270-F | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 272-G | Transmembrane/Linker/Pore | Arrhythmia (7) | ||
| 273-L | Transmembrane/Linker/Pore | Arrhythmia (19) | 9 | KCNQ2 - Epilepsy, benign neonatal |
| 274-I | Transmembrane/Linker/Pore | Arrhythmia (6) | ||
| 275-F | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 276-S | Transmembrane/Linker/Pore | None | ||
| 277-S | Transmembrane/Linker/Pore | Arrhythmia (11) | 9 | KCNQ2 - Epilepsy, benign neonatal |
| 278-Y | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | KCNA1 - Episodic ataxia KCNB1 - Epileptic encephalopathy |
| 279-F | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | KCND3 - Spinocerebellar ataxia 22 |
| 280-V | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | KCNQ2 - Epilepsy, benign neonatal |
| 281-Y | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 282-L | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 283-A | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | KCNQ2 - Epileptic encephalopathy, type 7 |
| 284-E | Transmembrane/Linker/Pore | Arrhythmia (2) | 9 | KCNQ4 - Deafness, autosomal dominant 2 |
| 287-A | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 290-E | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 292-G | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 293-R | Transmembrane/Linker/Pore | Arrhythmia (7) | 8 | KCNQ2 - Epilepsy, benign neonatal |
| 294-V | Transmembrane/Linker/Pore | Prob. Benign (0) | 9 | KCNV2 - Cone dystrophy with supernormal rod ERG ? |
| 296-F | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 297-G | Transmembrane/Linker/Pore | Prob. Benign (2) | 9 | KCND3 - Spinocerebellar ataxia 19 |
| 300-A | Transmembrane/Linker/Pore | Arrhythmia (7) | 9 | KCNQ2 - Epileptic encephalopathy, early-onset, Epileptic encephalopathy, neonatal |
| 302-A | Transmembrane/Linker/Pore | Arrhythmia (10) | ||
| 303-L | Transmembrane/Linker/Pore | Arrhythmia (2) | 9 | KCNQ2 - Epileptic encephalopathy, early-onset KCNQ4 - Deafness, autosomal dominant 2 |
| 304-W | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | KCNQ4 - Hearing loss, non-syndromic, autosomal dominant |
| 305-W | Transmembrane/Linker/Pore | Arrhythmia (9) | 9 | KCNQ3 - Epilepsy, benign neonatal KCNQ4 - Deafness, autosomal dominant 2, Hearing loss, non-syndromic KCNV2 - Cone dystrophy with supernormal rod ERG |
| 306-G | Transmembrane/Linker/Pore | Arrhythmia (14) | 9 | KCNQ2 - Infantile seizures KCNQ3 - Epilepsy, benign neonatal |
| 307-V | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 308-V | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 309-T | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | KCNB1 - Epileptic encephalopathy KCNQ2 - Epileptic encephalopathy, neonatal |
| 310-V | Transmembrane/Linker/Pore | Arrhythmia (6) | 9 | KCNQ4 - Deafness, autosomal dominant 2 |
| 311-T | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | KCNA1 - Intellectual disability KCNQ2 - Ohtahara syndrome |
| 312-T | Transmembrane/Linker/Pore | Arrhythmia (14) | 9 | KCNA2 - Epileptic encephalopathy, early onset KCNQ2 - Epileptic encephalopathy, early infantile |
| 313-I | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | KCNB1 - Neurodevelopmental disorder KCNQ3 - Epilepsy, benign neonatal |
| 314-G | Transmembrane/Linker/Pore | Arrhythmia (28) | 9 | KCNB1 - Epileptic encephalopathy KCNQ2 - Epileptic encephalopathy, type 7 KCNQ4 - Deafness, autosomal dominant 2 KCNV2 - Cone dystrophy with supernormal rod ERG |
| 315-Y | Transmembrane/Linker/Pore | Arrhythmia (24) | 9 | KCNQ4 - Hearing loss |
| 316-G | Transmembrane/Linker/Pore | Arrhythmia (8) | 9 | KCNB1 - Epileptic encephalopathy, early onset KCNQ2 - Epileptic encephalopathy, early-onset, Epileptic encephalopathy, neonatal KCNQ4 - Deafness, autosomal dominant 2 KCNV2 - Cone dystrophy with supernormal rod ERG |
| 317-D | Transmembrane/Linker/Pore | Arrhythmia (6) | 9 | KCNS2 - Essential tremor, early-onset |
| 318-K | Transmembrane/Linker/Pore | Arrhythmia (2) | 9 | KCND3 - Spinocerebellar ataxia 19 |
| 320-P | Transmembrane/Linker/Pore | Arrhythmia (9) | 9 | KCNA5 - Atrial fibrillation KCNQ2 - Ohtahara syndrome KCNQ4 - Hearing loss, non-syndromic, autosomal dominant |
| 321-Q | Transmembrane/Linker/Pore | None | ||
| 322-T | Transmembrane/Linker/Pore | Arrhythmia (13) | 9 | KCND3 - Spinocerebellar ataxia 22 KCNQ2 - Epileptic encephalopathy, early-onset |
| 325-G | Transmembrane/Linker/Pore | Arrhythmia (16) | 9 | KCNQ2 - Epileptic encephalopathy, early-onset, Epileptic encephalopathy, neonatal KCNQ4 - Deafness, autosomal dominant 2 KCNV2 - Cone-rod dystrophy |
| 327-T | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 329-A | Transmembrane/Linker/Pore | Prob. Benign (0) | 9 | KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, early-onset |
| 335-F | Transmembrane/Linker/Pore | Prob. Benign (2) | 9 | KCND3 - Spinocerebellar ataxia 19 |
| 337-I | Transmembrane/Linker/Pore | None | 9 | KCND3 - Sudden unexplained death syndrome |
| 338-S | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 339-F | Transmembrane/Linker/Pore | Arrhythmia (6) | 9 | KCNQ2 - Epileptic encephalopathy, early-onset |
| 340-F | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | KCNQ2 - Epileptic encephalopathy, early infantile |
| 341-A | Transmembrane/Linker/Pore | Arrhythmia (41) | 9 | KCNQ2 - Epilepsy, benign neonatal, Sudden unexpected death in epilepsy |
| 342-L | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 343-P | Transmembrane/Linker/Pore | Arrhythmia (9) | 9 | KCNA2 - Epileptic encephalopathy |
| 344-A | Transmembrane/Linker/Pore | Arrhythmia (8) | 9 | KCNA1 - Episodic ataxia / myokymia KCNC3 - Spinocerebellar ataxia 13 KCNQ2 - Epileptic encephalopathy, early-onset |
| 345-G | Transmembrane/Linker/Pore | Arrhythmia (8) | ||
| 347-L | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | KCNA1 - Episodic ataxia 1 |
| 349-S | C-terminus | Arrhythmia (10) | ||
| 350-G | C-terminus | Arrhythmia (5) | 9 | KCNQ2 - Epileptic encephalopathy, neonatal KCNQ4 - Deafness, autosomal dominant 2 |
| 351-F | C-terminus | Arrhythmia (3) | 9 | KCNB1 - Epileptic encephalopathy, early onset |
| 353-L | C-terminus | Arrhythmia (5) | ||
| 354-K | C-terminus | Arrhythmia (2) | 9 | KCNA1 - Episodic ataxia / myokymia, Episodic ataxia 1 KCNQ2 - Epileptic encephalopathy, early infantile |
| 357-Q | C-terminus | Arrhythmia (5) | 8 | KCNS1 - Autism |
| 360-R | C-terminus | Arrhythmia (8) | 7 | KCNQ2 - Epileptic encephalopathy, neonatal KCNQ3 - Seizures, benign infantile |
| 362-K | C-terminus | Arrhythmia (6) | ||
| 363-H | C-terminus | Arrhythmia (3) | ||
| 364-F | C-terminus | Prob. Benign (0) | ||
| 365-N | C-terminus | Arrhythmia (2) | ||
| 366-R | C-terminus | Arrhythmia (23) | ||
| 367-Q | C-terminus | Arrhythmia (3) | ||
| 369-P | C-terminus | None | ||
| 370-A | C-terminus | Prob. Benign (0) | ||
| 371-A | C-terminus | Arrhythmia (2) | ||
| 372-A | C-terminus | Arrhythmia (1) | 3 | KCNQ2 - Epileptic encephalopathy, early-onset |
| 373-S | C-terminus | Arrhythmia (4) | ||
| 374-L | C-terminus | Arrhythmia (2) | 2 | KCNQ2 - Epilepsy, benign neonatal |
| 375-I | C-terminus | None | ||
| 378-A | C-terminus | Prob. Benign (0) | ||
| 379-W | C-terminus | Arrhythmia (5) | 2 | KCNQ2 - Epilepsy, benign neonatal |
| 380-R | C-terminus | Arrhythmia (6) | ||
| 381-C | C-terminus | Prob. Benign (0) | ||
| 385-E | C-terminus | Arrhythmia (2) | ||
| 386-N | C-terminus | Prob. Benign (0) | 1 | KCNQ2 - Epilepsy, benign neonatal |
| 388-D | C-terminus | Prob. Benign (0) | 1 | KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, early-onset |
| 389-S | C-terminus | Arrhythmia (2) | ||
| 391-T | C-terminus | Arrhythmia (3) | 1 | KCNQ2 - Epilepsy, benign neonatal |
| 392-W | C-terminus | Arrhythmia (2) | 1 | KCND3 - Brugada syndrome |
| 393-K | C-terminus | Conflict (15) | ||
| 395-Y | C-terminus | Prob. Benign (0) | ||
| 397-R | C-terminus | Arrhythmia (12) | ||
| 398-K | C-terminus | Arrhythmia (1) | ||
| 399-A | C-terminus | Prob. Benign (0) | ||
| 401-R | C-terminus | Prob. Benign (0) | ||
| 402-S | C-terminus | None | ||
| 408-P | C-terminus | Benign (3) | ||
| 416-V | C-terminus | Prob. Benign (0) | ||
| 417-V | C-terminus | Prob. Benign (0) | ||
| 418-V | C-terminus | Prob. Benign (0) | ||
| 422-K | C-terminus | Arrhythmia (2) | ||
| 428-D | C-terminus | Prob. Benign (2) | ||
| 430-G | C-terminus | Prob. Benign (0) | ||
| 432-T | C-terminus | Prob. Benign (0) | ||
| 434-G | C-terminus | Prob. Benign (0) | ||
| 441-P | C-terminus | Prob. Benign (2) | ||
| 442-H | C-terminus | Prob. Benign (0) | ||
| 444-T | C-terminus | Prob. Benign (0) | ||
| 446-D | C-terminus | Arrhythmia (2) | 1 | KCNB2 - Brugada syndrome |
| 447-P | C-terminus | Prob. Benign (0) | ||
| 448-P | C-terminus | Conflict (19) | ||
| 449-E | C-terminus | Prob. Benign (0) | ||
| 450-E | C-terminus | Prob. Benign (0) | ||
| 451-R | C-terminus | Arrhythmia (8) | ||
| 452-R | C-terminus | Arrhythmia (5) | ||
| 455-H | C-terminus | Arrhythmia (3) | ||
| 459-D | C-terminus | Prob. Benign (0) | ||
| 460-G | C-terminus | Arrhythmia (5) | ||
| 462-D | C-terminus | Prob. Benign (0) | ||
| 463-S | C-terminus | Prob. Benign (0) | ||
| 466-R | C-terminus | Other Cardiac (1) | ||
| 468-S | C-terminus | Prob. Benign (0) | ||
| 472-L | C-terminus | Prob. Benign (0) | ||
| 473-E | C-terminus | Prob. Benign (0) | ||
| 476-M | C-terminus | None | ||
| 477-P | C-terminus | Arrhythmia (1) | ||
| 481-R | C-terminus | Prob. Benign (0) | ||
| 482-T | C-terminus | Prob. Benign (0) | ||
| 484-S | C-terminus | Prob. Benign (1) | ||
| 486-A | C-terminus | Prob. Benign (0) | ||
| 488-D | C-terminus | Prob. Benign (0) | ||
| 493-G | C-terminus | Prob. Benign (0) | ||
| 495-T | C-terminus | Prob. Benign (0) | ||
| 499-P | C-terminus | Prob. Benign (0) | ||
| 500-I | C-terminus | Prob. Benign (0) | ||
| 501-T | C-terminus | Prob. Benign (0) | ||
| 505-Q | C-terminus | Prob. Benign (0) | ||
| 507-R | C-terminus | Prob. Benign (1) | ||
| 511-R | C-terminus | Arrhythmia (1) | ||
| 513-T | C-terminus | Arrhythmia (1) | ||
| 514-I | C-terminus | Arrhythmia (2) | ||
| 515-K | C-terminus | None | 2 | KCNQ2 - Epileptic encephalopathy, early-onset |
| 517-I | C-terminus | Arrhythmia (3) | ||
| 518-R | C-terminus | Arrhythmia (6) | ||
| 519-R | C-terminus | Arrhythmia (4) | ||
| 520-M | C-terminus | Arrhythmia (5) | 2 | KCNQ2 - Epileptic encephalopathy, neonatal |
| 522-Y | C-terminus | Arrhythmia (2) | ||
| 524-V | C-terminus | Arrhythmia (9) | ||
| 525-A | C-terminus | Arrhythmia (7) | ||
| 526-K | C-terminus | Arrhythmia (3) | 2 | KCNQ2 - Epileptic encephalopathy, neonatal |
| 532-A | C-terminus | Arrhythmia (1) | ||
| 533-R | C-terminus | Arrhythmia (2) | ||
| 538-V | C-terminus | Prob. Benign (0) | ||
| 539-R | C-terminus | Arrhythmia (12) | ||
| 541-V | C-terminus | Arrhythmia (1) | ||
| 543-E | C-terminus | Arrhythmia (1) | ||
| 544-Q | C-terminus | None | ||
| 545-Y | C-terminus | Arrhythmia (1) | ||
| 546-S | C-terminus | Arrhythmia (9) | ||
| 547-Q | C-terminus | Arrhythmia (1) | ||
| 548-G | C-terminus | Arrhythmia (2) | ||
| 550-L | C-terminus | Prob. Benign (0) | ||
| 552-L | C-terminus | Prob. Benign (0) | 2 | KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, neonatal |
| 554-V | C-terminus | Arrhythmia (1) | ||
| 555-R | C-terminus | Arrhythmia (21) | 2 | KCNQ2 - Epilepsy, benign neonatal, Infantile spasms |
| 557-K | C-terminus | Arrhythmia (4) | ||
| 561-R | C-terminus | Arrhythmia (1) | ||
| 562-R | C-terminus | Arrhythmia (6) | 2 | KCNQ2 - Epilepsy, benign neonatal |
| 564-D | C-terminus | Arrhythmia (1) | ||
| 566-S | C-terminus | Arrhythmia (10) | 3 | KCNQ2 - Epilepsy, rolandic without neonatal seizures |
| 567-I | C-terminus | Arrhythmia (11) | ||
| 568-G | C-terminus | Arrhythmia (9) | ||
| 569-K | C-terminus | Arrhythmia (2) | 3 | KCNQ2 - Epilepsy, benign, infantile offset KCNQ3 - Epilepsy, idiopathic , Epilepsy, rolandic without neonatal seizures |
| 570-P | C-terminus | Arrhythmia (1) | ||
| 571-S | C-terminus | Arrhythmia (1) | ||
| 573-F | C-terminus | Arrhythmia (2) | ||
| 574-I | C-terminus | Prob. Benign (0) | ||
| 576-V | C-terminus | Arrhythmia (2) | ||
| 579-K | C-terminus | Prob. Benign (0) | ||
| 580-S | C-terminus | Prob. Benign (0) | ||
| 583-R | C-terminus | Arrhythmia (6) | ||
| 584-G | C-terminus | Arrhythmia (4) | ||
| 585-S | C-terminus | Prob. Benign (0) | ||
| 586-N | C-terminus | Arrhythmia (1) | ||
| 587-T | C-terminus | Arrhythmia (17) | ||
| 588-I | C-terminus | Arrhythmia (2) | ||
| 589-G | C-terminus | Arrhythmia (14) | ||
| 590-A | C-terminus | Arrhythmia (8) | ||
| 591-R | C-terminus | Arrhythmia (18) | ||
| 593-N | C-terminus | Other Cardiac (1) | ||
| 594-R | C-terminus | Arrhythmia (21) | ||
| 595-V | C-terminus | Prob. Benign (0) | ||
| 596-E | C-terminus | Arrhythmia (1) | ||
| 598-K | C-terminus | Other Cardiac (2) | ||
| 600-T | C-terminus | Arrhythmia (6) | ||
| 602-L | C-terminus | Arrhythmia (1) | ||
| 604-Q | C-terminus | None | ||
| 609-I | C-terminus | Arrhythmia (1) | ||
| 610-T | C-terminus | None | ||
| 611-D | C-terminus | Arrhythmia (9) | ||
| 612-M | C-terminus | None | ||
| 613-L | C-terminus | Prob. Benign (0) | ||
| 619-L | C-terminus | Arrhythmia (4) | ||
| 621-G | C-terminus | Other Cardiac (3) | ||
| 623-S | C-terminus | Prob. Benign (0) | ||
| 625-P | C-terminus | Prob. Benign (0) | ||
| 626-G | C-terminus | Arrhythmia (3) | ||
| 628-G | C-terminus | Prob. Benign (0) | ||
| 629-G | C-terminus | Prob. Benign (1) | ||
| 630-P | C-terminus | Arrhythmia (1) | ||
| 635-G | C-terminus | Arrhythmia (2) | ||
| 641-P | C-terminus | Prob. Benign (0) | ||
| 642-C | C-terminus | None | ||
| 643-G | C-terminus | Conflict (11) | ||
| 646-G | C-terminus | Prob. Benign (0) | ||
| 648-V | C-terminus | Benign (2) | ||
| 649-D | C-terminus | Prob. Benign (0) | ||
| 655-P | C-terminus | Prob. Benign (0) | ||
| 656-S | C-terminus | Prob. Benign (0) | 2 | KCND2 - J-wave syndrome with sudden cardiac death |
| 657-N | C-terminus | Prob. Benign (0) | ||
| 658-T | C-terminus | Prob. Benign (0) | ||
| 660-P | C-terminus | None | ||
| 663-E | C-terminus | Prob. Benign (0) | ||
| 667-V | C-terminus | Prob. Benign (0) | ||
| 670-R | C-terminus | Arrhythmia (2) | ||
| 672-P | C-terminus | Prob. Benign (0) |