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 or mapped disease-causing missense variants from paralogues 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), 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) | ||
| 52-A | N-terminus | None | 9 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 53-P | N-terminus | None | 9 | KCNV2 - Cone dystrophy, autosomal recessive |
| 57-G | N-terminus | Arrhythmia (2) | 9 | KCNA5 - Pulmonary arterial hypertension |
| 58-A | N-terminus | Arrhythmia (1) | ||
| 59-P | N-terminus | None | 9 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 62-A | N-terminus | None | ||
| 63-P | N-terminus | None | 9 | KCNA5 - Pulmonary arterial hypertension |
| 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 |
| 72-A | N-terminus | None | 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) | ||
| 78-D | N-terminus | None | 9 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 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) | ||
| 87-L | N-terminus | None | 5 | KCNA5 - Pulmonary arterial hypertension ? |
| 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) | ||
| 97-R | N-terminus | None | 3 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 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 |
| 123-F | Transmembrane/Linker/Pore | None | 8 | KCNA1 - Episodic ataxia 1 |
| 124-V | Transmembrane/Linker/Pore | None | 9 | 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) | ||
| 130-F | Transmembrane/Linker/Pore | None | 9 | KCNA1 - Episodic ataxia / myokymia |
| 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) | ||
| 148-Y | Transmembrane/Linker/Pore | None | 8 | KCNV2 - Epilepsy |
| 149-A | Transmembrane/Linker/Pore | None | 8 | KCNQ2 - Epilepsy, benign neonatal |
| 150-A | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 152-A | Transmembrane/Linker/Pore | None | 4 | KCNQ2 - Epilepsy, benign neonatal |
| 153-T | Transmembrane/Linker/Pore | Arrhythmia (5) | ||
| 154-G | Transmembrane/Linker/Pore | None | 6 | KCNA5 - Atrial fibrillation |
| 157-F | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 160-E | Transmembrane/Linker/Pore | Arrhythmia (6) | ||
| 161-I | Transmembrane/Linker/Pore | None | 9 | KCNA1 - Episodic ataxia / myokymia, Myokymia |
| 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 |
| 232-F | Transmembrane/Linker/Pore | None | 9 | KCNA2 - Epileptic encephalopathy |
| 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) | ||
| 237-R | Transmembrane/Linker/Pore | None | 9 | KCNB1 - Epilepsy, infantile KCNC1 - Epilepsy, progressive myoclonus KCNC3 - Spinocerebellar ataxia 13 KCNQ2 - Epilepsy, benign neonatal, Peripheral nerve hyperexcitability |
| 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 |
| 244-Q | Transmembrane/Linker/Pore | None | 9 | KCNQ2 - Epilepsy, benign neonatal |
| 245-G | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | KCNQ2 - Epileptic encephalopathy, neonatal |
| 247-T | Transmembrane/Linker/Pore | None | 9 | KCNA1 - Episodic ataxia KCNQ2 - Seizures, benign infantile |
| 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 |
| 255-V | Transmembrane/Linker/Pore | None | 9 | KCNV2 - Cone dystrophy with supernormal rod ERG |
| 258-H | Transmembrane/Linker/Pore | Arrhythmia (5) | 9 | KCNQ2 - Epilepsy, benign neonatal KCNQ4 - Hearing loss, non-syndromic |
| 259-R | Transmembrane/Linker/Pore | Arrhythmia (23) | ||
| 260-Q | Transmembrane/Linker/Pore | None | 9 | KCNV2 - Parkinson disease, early onset |
| 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 |
| 286-D | Transmembrane/Linker/Pore | None | 8 | KCND3 - Spinocerebellar ataxia 22 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 ? |
| 295-E | Transmembrane/Linker/Pore | None | 9 | KCNA5 - Atrial fibrillation KCNQ3 - Epilepsy, rolandic & benign neonatal convulsions |
| 296-F | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 297-G | Transmembrane/Linker/Pore | Prob. Benign (2) | 9 | KCND3 - Spinocerebellar ataxia 19 |
| 299-Y | Transmembrane/Linker/Pore | None | 9 | KCNQ4 - Deafness, autosomal dominant 2 |
| 300-A | Transmembrane/Linker/Pore | Arrhythmia (7) | 9 | KCNQ2 - Epileptic encephalopathy, early-onset, Epileptic encephalopathy, neonatal |
| 301-D | Transmembrane/Linker/Pore | None | 9 | KCNA5 - Atrial fibrillation KCNQ3 - Epilepsy, benign 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 |
| 319-V | Transmembrane/Linker/Pore | None | 9 | KCNQ2 - Epilepsy, benign neonatal |
| 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 |
| 326-K | Transmembrane/Linker/Pore | None | 9 | KCNQ3 - Epilepsy & intellectual disability, Epilepsy, benign neonatal, Seizures, benign neonatal KCNQ4 - Hearing loss, non-syndromic, autosomal dominant |
| 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 |
| 331-C | Transmembrane/Linker/Pore | None | 9 | KCNQ2 - Epileptic encephalopathy, early-onset |
| 335-F | Transmembrane/Linker/Pore | Prob. Benign (2) | 9 | KCND3 - Spinocerebellar ataxia 19 |
| 336-A | Transmembrane/Linker/Pore | None | 9 | KCNB1 - Epilepsy, infantile KCNQ2 - Epileptic encephalopathy, early-onset KCNQ3 - Epilepsy, benign neonatal KCNV2 - Leber congenital amaurosis |
| 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) | ||
| 346-I | Transmembrane/Linker/Pore | None | 9 | KCND2 - Autism & epilepsy |
| 347-L | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | KCNA1 - Episodic ataxia 1 |
| 348-G | Transmembrane/Linker/Pore | None | 9 | KCNA1 - Episodic ataxia / myokymia, Episodic ataxia with cerebellar dysfunction & cogn |
| 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 |
| 359-Q | C-terminus | None | 7 | KCNA5 - Atrial fibrillation KCNQ2 - Epileptic encephalopathy, neonatal |
| 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) | ||
| 368-I | C-terminus | None | 4 | KCNQ2 - Epilepsy, benign neonatal |
| 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 | ||
| 377-T | C-terminus | None | 2 | KCNQ3 - Epilepsy, rolandic without neonatal seizures |
| 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 |
| 387-P | C-terminus | None | 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) | ||
| 390-S | C-terminus | None | 1 | KCNQ2 - Epilepsy, benign neonatal |
| 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) | ||
| 394-I | C-terminus | None | 1 | KCNQ2 - Epilepsy, benign neonatal |
| 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) | ||
| 409-S | C-terminus | None | 1 | KCNQ2 - Myoclonus epilepsy |
| 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) | ||
| 480-M | C-terminus | None | 1 | KCNQ4 - Deafness, autosomal dominant 2 ? |
| 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) | ||
| 489-L | C-terminus | None | 1 | KCNQ2 - Epilepsy, benign neonatal |
| 490-D | C-terminus | None | 1 | KCND3 - Sudden infant death syndrome |
| 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 |
| 521-Q | C-terminus | None | 2 | KCNQ2 - Seizures, benign 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 |
| 527-K | C-terminus | None | 2 | KCNQ2 - Epilepsy, benign neonatal, Ohtahara syndrome, Ohtahara/West syndrome |
| 528-K | C-terminus | None | 1 | KCNQ2 - Epilepsy, benign neonatal |
| 530-Q | C-terminus | None | 2 | KCNQ2 - Epileptic encephalopathy, neonatal |
| 532-A | C-terminus | Arrhythmia (1) | ||
| 533-R | C-terminus | Arrhythmia (2) | ||
| 534-K | C-terminus | None | 2 | KCNQ2 - Epileptic encephalopathy, neonatal |
| 535-P | C-terminus | None | 2 | KCNQ2 - Epileptic encephalopathy, early infantile, Ohtahara syndrome |
| 537-D | C-terminus | None | 1 | KCNQ2 - Epileptic encephalopathy, early-onset, Ohtahara syndrome |
| 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) | ||
| 549-H | C-terminus | None | 2 | KCND3 - Brugada syndrome, Sudden unexplained death syndrome |
| 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 | ||
| 606-L | C-terminus | None | 2 | KCNQ2 - Epilepsy, benign neonatal |
| 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) | ||
| 631-P | C-terminus | None | 1 | KCNQ4 - Deafness |
| 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) | ||
| 674-E | C-terminus | Prob. Benign (0) |