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.



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.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
1-M N-terminusArrhythmia (3)
2-A N-terminusArrhythmia (2)
3-A N-terminusNone
7-P N-terminusArrhythmia (3)1 KCNQ2 - Epilepsy, benign neonatal
10-A N-terminusNone
14-R N-terminusArrhythmia (1)
22-G N-terminusNone
27-S N-terminusNone
28-A N-terminusProb. Benign (0)
46-A N-terminusArrhythmia (7)7 KCNC3 - Spinocerebellar ataxia 13
51-Y N-terminusOther Cardiac (1)
52-A N-terminusNone9 KCNV2 - Cone dystrophy with supernormal rod ERG
53-P N-terminusNone9 KCNV2 - Cone dystrophy, autosomal recessive
57-G N-terminusArrhythmia (2)9 KCNA5 - Pulmonary arterial hypertension
58-A N-terminusArrhythmia (1)
59-P N-terminusNone9 KCNV2 - Cone dystrophy with supernormal rod ERG
62-A N-terminusNone
63-P N-terminusNone9 KCNA5 - Pulmonary arterial hypertension
64-P N-terminusProb. Benign (0)
65-A N-terminusProb. Benign (0)
66-S N-terminusArrhythmia (1)
70-P N-terminusNone
71-A N-terminusProb. Benign (0)8 KCNV2 - Cone dystrophy with supernormal rod ERG
72-A N-terminusNone8 KCNV2 - Cone dystrophy with supernormal rod ERG
73-P N-terminusArrhythmia (5)
76-A N-terminusProb. Benign (0)
77-S N-terminusProb. Benign (0)
78-D N-terminusNone9 KCNV2 - Cone dystrophy with supernormal rod ERG
81-P N-terminusProb. Benign (0)
83-P N-terminusProb. Benign (0)
84-P N-terminusNone
86-S N-terminusProb. Benign (0)
87-L N-terminusNone5 KCNA5 - Pulmonary arterial hypertension ?
89-P N-terminusProb. Benign (0)5 KCNV2 - Cone dystrophy with supernormal rod ERG
92-S N-terminusProb. Benign (0)
93-I N-terminusProb. Benign (0)
94-Y N-terminusProb. Benign (0)
96-T N-terminusArrhythmia (1)
97-R N-terminusNone3 KCNV2 - Cone dystrophy with supernormal rod ERG
98-R N-terminusProb. Benign (0)
99-P N-terminusOther Cardiac (1)
104-T N-terminusProb. Benign (0)3 KCNV2 - Cone dystrophy with supernormal rod ERG
105-H N-terminusArrhythmia (1)
107-Q N-terminusNone7 KCNV2 - Cone dystrophy with supernormal rod ERG
109-R N-terminusProb. Benign (0)
110-V N-terminusArrhythmia (4)
111-Y N-terminusArrhythmia (9)
114-L N-terminusArrhythmia (3)
115-E N-terminusArrhythmia (1)
116-R N-terminusNone
117-P N-terminusArrhythmia (4)
119-G N-terminusArrhythmia (2)9 KCNV2 - Cone dystrophy with supernormal rod ERG
122-C Transmembrane/Linker/PoreArrhythmia (3)8 KCNV2 - Cone dystrophy with supernormal rod ERG
123-F Transmembrane/Linker/PoreNone8 KCNA1 - Episodic ataxia 1
124-V Transmembrane/Linker/PoreNone9 KCNV2 - Cone dystrophy with supernormal rod ERG
125-Y Transmembrane/Linker/PoreNone
126-H Transmembrane/Linker/PoreArrhythmia (1)
127-F Transmembrane/Linker/PoreArrhythmia (1)
129-V Transmembrane/Linker/PoreProb. Benign (2)
130-F Transmembrane/Linker/PoreNone9 KCNA1 - Episodic ataxia / myokymia
131-L Transmembrane/Linker/PoreNone
132-I Transmembrane/Linker/PoreArrhythmia (1)
133-V Transmembrane/Linker/PoreArrhythmia (3)9 KCNA1 - Episodic ataxia / myokymia
134-L Transmembrane/Linker/PoreArrhythmia (1)
136-C Transmembrane/Linker/PoreArrhythmia (1)
137-L Transmembrane/Linker/PoreArrhythmia (1)
140-S Transmembrane/Linker/PoreArrhythmia (11)9 KCNA1 - Episodic ataxia / myokymia
141-V Transmembrane/Linker/PoreArrhythmia (7)9 KCNA1 - Episodic ataxia 1
143-S Transmembrane/Linker/PoreNone
144-T Transmembrane/Linker/PoreArrhythmia (4)9 KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, early-onset
145-I Transmembrane/Linker/PoreProb. Benign (0)
146-E Transmembrane/Linker/PoreArrhythmia (3)
147-Q Transmembrane/Linker/PoreArrhythmia (1)
148-Y Transmembrane/Linker/PoreNone8 KCNV2 - Epilepsy
149-A Transmembrane/Linker/PoreNone8 KCNQ2 - Epilepsy, benign neonatal
150-A Transmembrane/Linker/PoreArrhythmia (1)
152-A Transmembrane/Linker/PoreNone4 KCNQ2 - Epilepsy, benign neonatal
153-T Transmembrane/Linker/PoreArrhythmia (5)
154-G Transmembrane/Linker/PoreNone6 KCNA5 - Atrial fibrillation
157-F Transmembrane/Linker/PoreArrhythmia (2)
160-E Transmembrane/Linker/PoreArrhythmia (6)
161-I Transmembrane/Linker/PoreNone9 KCNA1 - Episodic ataxia / myokymia, Myokymia
162-V Transmembrane/Linker/PoreArrhythmia (1)
165-V Transmembrane/Linker/PoreOther Cardiac (1)
166-F Transmembrane/Linker/PoreProb. Benign (0)
168-G Transmembrane/Linker/PoreArrhythmia (22)
169-T Transmembrane/Linker/PoreArrhythmia (2)
170-E Transmembrane/Linker/PoreArrhythmia (1)
171-Y Transmembrane/Linker/PoreArrhythmia (1)
172-V Transmembrane/Linker/PoreArrhythmia (3)
173-V Transmembrane/Linker/PoreArrhythmia (1)
174-R Transmembrane/Linker/PoreArrhythmia (15)9 KCNA1 - Episodic ataxia / myokymia
KCNQ2 - Infantile spasms
KCNV2 - Cone dystrophy with supernormal rod ERG
178-A Transmembrane/Linker/PoreArrhythmia (9)
179-G Transmembrane/Linker/PoreArrhythmia (5)
181-R Transmembrane/Linker/PoreProb. Benign (2)
183-K Transmembrane/Linker/PoreArrhythmia (2)
184-Y Transmembrane/Linker/PoreArrhythmia (8)8 KCNQ2 - Seizures, benign neonatal-infantile
185-V Transmembrane/Linker/PoreProb. Benign (0)8 KCNV2 - Cone dystrophy with supernormal rod ERG ?
186-G Transmembrane/Linker/PoreArrhythmia (7)8 KCNA1 - Epilepsy partial and myokymia
187-L Transmembrane/Linker/PoreArrhythmia (1)
188-W Transmembrane/Linker/PoreProb. Benign (0)8 KCNA1 - Myokymia
189-G Transmembrane/Linker/PoreArrhythmia (12)8 KCNQ2 - Epilepsy, benign neonatal, Seizures, benign neonatal
190-R Transmembrane/Linker/PoreArrhythmia (22)
191-L Transmembrane/Linker/PoreArrhythmia (2)
192-R Transmembrane/Linker/PoreArrhythmia (4)
193-F Transmembrane/Linker/PoreArrhythmia (2)9 KCNA1 - Episodic ataxia / myokymia
KCNV2 - Cone dystrophy with supernormal rod ERG
194-A Transmembrane/Linker/PoreArrhythmia (1)
195-R Transmembrane/Linker/PoreArrhythmia (5)
196-K Transmembrane/Linker/PoreNone
197-P Transmembrane/Linker/PoreArrhythmia (1)
198-I Transmembrane/Linker/PoreArrhythmia (1)
199-S Transmembrane/Linker/PoreArrhythmia (1)9 KCNA1 - Hypomagnesemia
200-I Transmembrane/Linker/PoreProb. Benign (0)
202-D Transmembrane/Linker/PoreArrhythmia (11)
203-L Transmembrane/Linker/PoreArrhythmia (1)
204-I Transmembrane/Linker/PoreArrhythmia (8)
205-V Transmembrane/Linker/PoreArrhythmia (7)9 KCNQ2 - Epileptic encephalopathy, early-onset, West syndrome
206-V Transmembrane/Linker/PoreProb. Benign (0)9 KCNA1 - Episodic ataxia, Episodic ataxia 1
KCNA2 - Epileptic encephalopathy
KCNQ4 - Deafness, autosomal dominant 2
207-V Transmembrane/Linker/PoreConflict (6)
208-A Transmembrane/Linker/PoreProb. Benign (0)
209-S Transmembrane/Linker/PoreArrhythmia (5)
210-M Transmembrane/Linker/PoreProb. Benign (0)
214-C Transmembrane/Linker/PoreProb. Benign (0)
215-V Transmembrane/Linker/PoreArrhythmia (6)
217-S Transmembrane/Linker/PoreNone
218-K Transmembrane/Linker/PoreOther Cardiac (1)
219-G Transmembrane/Linker/PoreProb. Benign (0)4 KCNQ2 - Epileptic encephalopathy, early-onset
220-Q Transmembrane/Linker/PoreProb. Benign (0)
224-T Transmembrane/Linker/PoreArrhythmia (1)6 KCNA2 - Epileptic encephalopathy, early onset
225-S Transmembrane/Linker/PoreArrhythmia (14)
226-A Transmembrane/Linker/PoreArrhythmia (2)8 KCNQ2 - Epilepsy, benign neonatal
KCNV2 - Cone dystrophy, autosomal recessive
227-I Transmembrane/Linker/PoreNone
229-G Transmembrane/Linker/PoreArrhythmia (3)9 KCNV2 - Cone dystrophy, autosomal recessive
231-R Transmembrane/Linker/PoreArrhythmia (12)9 KCNA2 - Ataxia & myoclonic epilepsy
KCNQ2 - Epileptic encephalopathy, early onset, Epileptic encephalopathy, neonatal
KCNQ3 - Intellectual disability, Intellectual disability, nonsyndromic
232-F Transmembrane/Linker/PoreNone9 KCNA2 - Epileptic encephalopathy
233-L Transmembrane/Linker/PoreProb. Benign (0)9 KCNQ2 - Epileptic encephalopathy, early-onset
234-Q Transmembrane/Linker/PoreNone9 KCNC3 - Spinocerebellar ataxia 13
235-I Transmembrane/Linker/PoreArrhythmia (7)9 KCNA1 - Episodic ataxia
KCNQ2 - Epileptic encephalopathy, neonatal
236-L Transmembrane/Linker/PoreArrhythmia (1)
237-R Transmembrane/Linker/PoreNone9 KCNB1 - Epilepsy, infantile
KCNC1 - Epilepsy, progressive myoclonus
KCNC3 - Spinocerebellar ataxia 13
KCNQ2 - Epilepsy, benign neonatal, Peripheral nerve hyperexcitability
238-M Transmembrane/Linker/PoreProb. Benign (0)9 KCNQ2 - Epilepsy, benign neonatal
239-L Transmembrane/Linker/PoreArrhythmia (2)
240-H Transmembrane/Linker/PoreProb. Benign (0)9 KCNQ2 - Epileptic encephalopathy, early-onset, Epileptic encephalopathy, neonatal
241-V Transmembrane/Linker/PoreArrhythmia (4)9 KCNA1 - Episodic ataxia
KCNQ4 - Hearing loss
242-D Transmembrane/Linker/PoreArrhythmia (7)9 KCNC3 - Cerebral palsy, ataxic
KCNQ2 - Epilepsy, benign neonatal
243-R Transmembrane/Linker/PoreArrhythmia (32)9 KCNA1 - Episodic ataxia 1
KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, neonatal
244-Q Transmembrane/Linker/PoreNone9 KCNQ2 - Epilepsy, benign neonatal
245-G Transmembrane/Linker/PoreArrhythmia (1)9 KCNQ2 - Epileptic encephalopathy, neonatal
247-T Transmembrane/Linker/PoreNone9 KCNA1 - Episodic ataxia
KCNQ2 - Seizures, benign infantile
248-W Transmembrane/Linker/PoreArrhythmia (3)
249-R Transmembrane/Linker/PoreProb. Benign (0)
250-L Transmembrane/Linker/PoreArrhythmia (3)9 KCNA1 - Episodic ataxia / myokymia
251-L Transmembrane/Linker/PoreArrhythmia (3)
252-G Transmembrane/Linker/PoreArrhythmia (1)
253-S Transmembrane/Linker/PoreArrhythmia (1)
254-V Transmembrane/Linker/PoreArrhythmia (21)9 KCNQ4 - Hearing loss, non-syndromic, autosomal dominant
255-V Transmembrane/Linker/PoreNone9 KCNV2 - Cone dystrophy with supernormal rod ERG
258-H Transmembrane/Linker/PoreArrhythmia (5)9 KCNQ2 - Epilepsy, benign neonatal
KCNQ4 - Hearing loss, non-syndromic
259-R Transmembrane/Linker/PoreArrhythmia (23)
260-Q Transmembrane/Linker/PoreNone9 KCNV2 - Parkinson disease, early onset
261-E Transmembrane/Linker/PoreArrhythmia (14)9 KCNA1 - Episodic ataxia / myokymia
KCNQ2 - Epileptic encephalopathy, neonatal
262-L Transmembrane/Linker/PoreArrhythmia (2)9 KCNC3 - Spinocerebellar ataxia 13
264-T Transmembrane/Linker/PoreProb. Benign (0)9 KCNQ2 - Epileptic encephalopathy, neonatal
265-T Transmembrane/Linker/PoreArrhythmia (2)9 KCNA1 - Episodic ataxia
266-L Transmembrane/Linker/PoreArrhythmia (10)
267-Y Transmembrane/Linker/PoreNone9 KCNQ2 - Epileptic encephalopathy, early infantile
268-I Transmembrane/Linker/PoreArrhythmia (1)
269-G Transmembrane/Linker/PoreArrhythmia (23)9 KCNQ2 - Epileptic encephalopathy, early-onset
270-F Transmembrane/Linker/PoreProb. Benign (0)
272-G Transmembrane/Linker/PoreArrhythmia (7)
273-L Transmembrane/Linker/PoreArrhythmia (19)9 KCNQ2 - Epilepsy, benign neonatal
274-I Transmembrane/Linker/PoreArrhythmia (6)
275-F Transmembrane/Linker/PoreArrhythmia (2)
276-S Transmembrane/Linker/PoreNone
277-S Transmembrane/Linker/PoreArrhythmia (11)9 KCNQ2 - Epilepsy, benign neonatal
278-Y Transmembrane/Linker/PoreArrhythmia (3)9 KCNA1 - Episodic ataxia
KCNB1 - Epileptic encephalopathy
279-F Transmembrane/Linker/PoreArrhythmia (1)9 KCND3 - Spinocerebellar ataxia 22
280-V Transmembrane/Linker/PoreArrhythmia (3)9 KCNQ2 - Epilepsy, benign neonatal
281-Y Transmembrane/Linker/PoreArrhythmia (3)
282-L Transmembrane/Linker/PoreArrhythmia (1)
283-A Transmembrane/Linker/PoreArrhythmia (3)9 KCNQ2 - Epileptic encephalopathy, type 7
284-E Transmembrane/Linker/PoreArrhythmia (2)9 KCNQ4 - Deafness, autosomal dominant 2
286-D Transmembrane/Linker/PoreNone8 KCND3 - Spinocerebellar ataxia 22
KCNQ4 - Deafness, autosomal dominant 2
287-A Transmembrane/Linker/PoreArrhythmia (3)
290-E Transmembrane/Linker/PoreArrhythmia (1)
292-G Transmembrane/Linker/PoreArrhythmia (4)
293-R Transmembrane/Linker/PoreArrhythmia (7)8 KCNQ2 - Epilepsy, benign neonatal
294-V Transmembrane/Linker/PoreProb. Benign (0)9 KCNV2 - Cone dystrophy with supernormal rod ERG ?
295-E Transmembrane/Linker/PoreNone9 KCNA5 - Atrial fibrillation
KCNQ3 - Epilepsy, rolandic & benign neonatal convulsions
296-F Transmembrane/Linker/PoreArrhythmia (2)
297-G Transmembrane/Linker/PoreProb. Benign (2)9 KCND3 - Spinocerebellar ataxia 19
299-Y Transmembrane/Linker/PoreNone9 KCNQ4 - Deafness, autosomal dominant 2
300-A Transmembrane/Linker/PoreArrhythmia (7)9 KCNQ2 - Epileptic encephalopathy, early-onset, Epileptic encephalopathy, neonatal
301-D Transmembrane/Linker/PoreNone9 KCNA5 - Atrial fibrillation
KCNQ3 - Epilepsy, benign neonatal
302-A Transmembrane/Linker/PoreArrhythmia (10)
303-L Transmembrane/Linker/PoreArrhythmia (2)9 KCNQ2 - Epileptic encephalopathy, early-onset
KCNQ4 - Deafness, autosomal dominant 2
304-W Transmembrane/Linker/PoreArrhythmia (3)9 KCNQ4 - Hearing loss, non-syndromic, autosomal dominant
305-W Transmembrane/Linker/PoreArrhythmia (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/PoreArrhythmia (14)9 KCNQ2 - Infantile seizures
KCNQ3 - Epilepsy, benign neonatal
307-V Transmembrane/Linker/PoreArrhythmia (4)
308-V Transmembrane/Linker/PoreArrhythmia (1)
309-T Transmembrane/Linker/PoreArrhythmia (3)9 KCNB1 - Epileptic encephalopathy
KCNQ2 - Epileptic encephalopathy, neonatal
310-V Transmembrane/Linker/PoreArrhythmia (6)9 KCNQ4 - Deafness, autosomal dominant 2
311-T Transmembrane/Linker/PoreArrhythmia (3)9 KCNA1 - Intellectual disability
KCNQ2 - Ohtahara syndrome
312-T Transmembrane/Linker/PoreArrhythmia (14)9 KCNA2 - Epileptic encephalopathy, early onset
KCNQ2 - Epileptic encephalopathy, early infantile
313-I Transmembrane/Linker/PoreArrhythmia (1)9 KCNB1 - Neurodevelopmental disorder
KCNQ3 - Epilepsy, benign neonatal
314-G Transmembrane/Linker/PoreArrhythmia (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/PoreArrhythmia (24)9 KCNQ4 - Hearing loss
316-G Transmembrane/Linker/PoreArrhythmia (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/PoreArrhythmia (6)9 KCNS2 - Essential tremor, early-onset
318-K Transmembrane/Linker/PoreArrhythmia (2)9 KCND3 - Spinocerebellar ataxia 19
319-V Transmembrane/Linker/PoreNone9 KCNQ2 - Epilepsy, benign neonatal
320-P Transmembrane/Linker/PoreArrhythmia (9)9 KCNA5 - Atrial fibrillation
KCNQ2 - Ohtahara syndrome
KCNQ4 - Hearing loss, non-syndromic, autosomal dominant
321-Q Transmembrane/Linker/PoreNone
322-T Transmembrane/Linker/PoreArrhythmia (13)9 KCND3 - Spinocerebellar ataxia 22
KCNQ2 - Epileptic encephalopathy, early-onset
325-G Transmembrane/Linker/PoreArrhythmia (16)9 KCNQ2 - Epileptic encephalopathy, early-onset, Epileptic encephalopathy, neonatal
KCNQ4 - Deafness, autosomal dominant 2
KCNV2 - Cone-rod dystrophy
326-K Transmembrane/Linker/PoreNone9 KCNQ3 - Epilepsy & intellectual disability, Epilepsy, benign neonatal, Seizures, benign neonatal
KCNQ4 - Hearing loss, non-syndromic, autosomal dominant
327-T Transmembrane/Linker/PoreProb. Benign (0)
329-A Transmembrane/Linker/PoreProb. Benign (0)9 KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, early-onset
331-C Transmembrane/Linker/PoreNone9 KCNQ2 - Epileptic encephalopathy, early-onset
335-F Transmembrane/Linker/PoreProb. Benign (2)9 KCND3 - Spinocerebellar ataxia 19
336-A Transmembrane/Linker/PoreNone9 KCNB1 - Epilepsy, infantile
KCNQ2 - Epileptic encephalopathy, early-onset
KCNQ3 - Epilepsy, benign neonatal
KCNV2 - Leber congenital amaurosis
337-I Transmembrane/Linker/PoreNone9 KCND3 - Sudden unexplained death syndrome
338-S Transmembrane/Linker/PoreArrhythmia (3)
339-F Transmembrane/Linker/PoreArrhythmia (6)9 KCNQ2 - Epileptic encephalopathy, early-onset
340-F Transmembrane/Linker/PoreArrhythmia (1)9 KCNQ2 - Epileptic encephalopathy, early infantile
341-A Transmembrane/Linker/PoreArrhythmia (41)9 KCNQ2 - Epilepsy, benign neonatal, Sudden unexpected death in epilepsy
342-L Transmembrane/Linker/PoreArrhythmia (4)
343-P Transmembrane/Linker/PoreArrhythmia (9)9 KCNA2 - Epileptic encephalopathy
344-A Transmembrane/Linker/PoreArrhythmia (8)9 KCNA1 - Episodic ataxia / myokymia
KCNC3 - Spinocerebellar ataxia 13
KCNQ2 - Epileptic encephalopathy, early-onset
345-G Transmembrane/Linker/PoreArrhythmia (8)
346-I Transmembrane/Linker/PoreNone9 KCND2 - Autism & epilepsy
347-L Transmembrane/Linker/PoreArrhythmia (1)9 KCNA1 - Episodic ataxia 1
348-G Transmembrane/Linker/PoreNone9 KCNA1 - Episodic ataxia / myokymia, Episodic ataxia with cerebellar dysfunction & cogn
349-S C-terminusArrhythmia (10)
350-G C-terminusArrhythmia (5)9 KCNQ2 - Epileptic encephalopathy, neonatal
KCNQ4 - Deafness, autosomal dominant 2
351-F C-terminusArrhythmia (3)9 KCNB1 - Epileptic encephalopathy, early onset
353-L C-terminusArrhythmia (5)
354-K C-terminusArrhythmia (2)9 KCNA1 - Episodic ataxia / myokymia, Episodic ataxia 1
KCNQ2 - Epileptic encephalopathy, early infantile
357-Q C-terminusArrhythmia (5)8 KCNS1 - Autism
359-Q C-terminusNone7 KCNA5 - Atrial fibrillation
KCNQ2 - Epileptic encephalopathy, neonatal
360-R C-terminusArrhythmia (8)7 KCNQ2 - Epileptic encephalopathy, neonatal
KCNQ3 - Seizures, benign infantile
362-K C-terminusArrhythmia (6)
363-H C-terminusArrhythmia (3)
364-F C-terminusProb. Benign (0)
365-N C-terminusArrhythmia (2)
366-R C-terminusArrhythmia (23)
367-Q C-terminusArrhythmia (3)
368-I C-terminusNone4 KCNQ2 - Epilepsy, benign neonatal
369-P C-terminusNone
370-A C-terminusProb. Benign (0)
371-A C-terminusArrhythmia (2)
372-A C-terminusArrhythmia (1)3 KCNQ2 - Epileptic encephalopathy, early-onset
373-S C-terminusArrhythmia (4)
374-L C-terminusArrhythmia (2)2 KCNQ2 - Epilepsy, benign neonatal
375-I C-terminusNone
377-T C-terminusNone2 KCNQ3 - Epilepsy, rolandic without neonatal seizures
378-A C-terminusProb. Benign (0)
379-W C-terminusArrhythmia (5)2 KCNQ2 - Epilepsy, benign neonatal
380-R C-terminusArrhythmia (6)
381-C C-terminusProb. Benign (0)
385-E C-terminusArrhythmia (2)
386-N C-terminusProb. Benign (0)1 KCNQ2 - Epilepsy, benign neonatal
387-P C-terminusNone1 KCNQ2 - Epilepsy, benign neonatal
388-D C-terminusProb. Benign (0)1 KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, early-onset
389-S C-terminusArrhythmia (2)
390-S C-terminusNone1 KCNQ2 - Epilepsy, benign neonatal
391-T C-terminusArrhythmia (3)1 KCNQ2 - Epilepsy, benign neonatal
392-W C-terminusArrhythmia (2)1 KCND3 - Brugada syndrome
393-K C-terminusConflict (15)
394-I C-terminusNone1 KCNQ2 - Epilepsy, benign neonatal
395-Y C-terminusProb. Benign (0)
397-R C-terminusArrhythmia (12)
398-K C-terminusArrhythmia (1)
399-A C-terminusProb. Benign (0)
401-R C-terminusProb. Benign (0)
402-S C-terminusNone
408-P C-terminusBenign (3)
409-S C-terminusNone1 KCNQ2 - Myoclonus epilepsy
416-V C-terminusProb. Benign (0)
417-V C-terminusProb. Benign (0)
418-V C-terminusProb. Benign (0)
422-K C-terminusArrhythmia (2)
428-D C-terminusProb. Benign (2)
430-G C-terminusProb. Benign (0)
432-T C-terminusProb. Benign (0)
434-G C-terminusProb. Benign (0)
441-P C-terminusProb. Benign (2)
442-H C-terminusProb. Benign (0)
444-T C-terminusProb. Benign (0)
446-D C-terminusArrhythmia (2)1 KCNB2 - Brugada syndrome
447-P C-terminusProb. Benign (0)
448-P C-terminusConflict (19)
449-E C-terminusProb. Benign (0)
450-E C-terminusProb. Benign (0)
451-R C-terminusArrhythmia (8)
452-R C-terminusArrhythmia (5)
455-H C-terminusArrhythmia (3)
459-D C-terminusProb. Benign (0)
460-G C-terminusArrhythmia (5)
462-D C-terminusProb. Benign (0)
463-S C-terminusProb. Benign (0)
466-R C-terminusOther Cardiac (1)
468-S C-terminusProb. Benign (0)
472-L C-terminusProb. Benign (0)
473-E C-terminusProb. Benign (0)
476-M C-terminusNone
477-P C-terminusArrhythmia (1)
480-M C-terminusNone1 KCNQ4 - Deafness, autosomal dominant 2 ?
481-R C-terminusProb. Benign (0)
482-T C-terminusProb. Benign (0)
484-S C-terminusProb. Benign (1)
486-A C-terminusProb. Benign (0)
488-D C-terminusProb. Benign (0)
489-L C-terminusNone1 KCNQ2 - Epilepsy, benign neonatal
490-D C-terminusNone1 KCND3 - Sudden infant death syndrome
493-G C-terminusProb. Benign (0)
495-T C-terminusProb. Benign (0)
499-P C-terminusProb. Benign (0)
500-I C-terminusProb. Benign (0)
501-T C-terminusProb. Benign (0)
505-Q C-terminusProb. Benign (0)
507-R C-terminusProb. Benign (1)
511-R C-terminusArrhythmia (1)
513-T C-terminusArrhythmia (1)
514-I C-terminusArrhythmia (2)
515-K C-terminusNone2 KCNQ2 - Epileptic encephalopathy, early-onset
517-I C-terminusArrhythmia (3)
518-R C-terminusArrhythmia (6)
519-R C-terminusArrhythmia (4)
520-M C-terminusArrhythmia (5)2 KCNQ2 - Epileptic encephalopathy, neonatal
521-Q C-terminusNone2 KCNQ2 - Seizures, benign neonatal
522-Y C-terminusArrhythmia (2)
524-V C-terminusArrhythmia (9)
525-A C-terminusArrhythmia (7)
526-K C-terminusArrhythmia (3)2 KCNQ2 - Epileptic encephalopathy, neonatal
527-K C-terminusNone2 KCNQ2 - Epilepsy, benign neonatal, Ohtahara syndrome, Ohtahara/West syndrome
528-K C-terminusNone1 KCNQ2 - Epilepsy, benign neonatal
530-Q C-terminusNone2 KCNQ2 - Epileptic encephalopathy, neonatal
532-A C-terminusArrhythmia (1)
533-R C-terminusArrhythmia (2)
534-K C-terminusNone2 KCNQ2 - Epileptic encephalopathy, neonatal
535-P C-terminusNone2 KCNQ2 - Epileptic encephalopathy, early infantile, Ohtahara syndrome
537-D C-terminusNone1 KCNQ2 - Epileptic encephalopathy, early-onset, Ohtahara syndrome
538-V C-terminusProb. Benign (0)
539-R C-terminusArrhythmia (12)
541-V C-terminusArrhythmia (1)
543-E C-terminusArrhythmia (1)
544-Q C-terminusNone
545-Y C-terminusArrhythmia (1)
546-S C-terminusArrhythmia (9)
547-Q C-terminusArrhythmia (1)
548-G C-terminusArrhythmia (2)
549-H C-terminusNone2 KCND3 - Brugada syndrome, Sudden unexplained death syndrome
550-L C-terminusProb. Benign (0)
552-L C-terminusProb. Benign (0)2 KCNQ2 - Epilepsy, benign neonatal, Epileptic encephalopathy, neonatal
554-V C-terminusArrhythmia (1)
555-R C-terminusArrhythmia (21)2 KCNQ2 - Epilepsy, benign neonatal, Infantile spasms
557-K C-terminusArrhythmia (4)
561-R C-terminusArrhythmia (1)
562-R C-terminusArrhythmia (6)2 KCNQ2 - Epilepsy, benign neonatal
564-D C-terminusArrhythmia (1)
566-S C-terminusArrhythmia (10)3 KCNQ2 - Epilepsy, rolandic without neonatal seizures
567-I C-terminusArrhythmia (11)
568-G C-terminusArrhythmia (9)
569-K C-terminusArrhythmia (2)3 KCNQ2 - Epilepsy, benign, infantile offset
KCNQ3 - Epilepsy, idiopathic , Epilepsy, rolandic without neonatal seizures
570-P C-terminusArrhythmia (1)
571-S C-terminusArrhythmia (1)
573-F C-terminusArrhythmia (2)
574-I C-terminusProb. Benign (0)
576-V C-terminusArrhythmia (2)
579-K C-terminusProb. Benign (0)
580-S C-terminusProb. Benign (0)
583-R C-terminusArrhythmia (6)
584-G C-terminusArrhythmia (4)
585-S C-terminusProb. Benign (0)
586-N C-terminusArrhythmia (1)
587-T C-terminusArrhythmia (17)
588-I C-terminusArrhythmia (2)
589-G C-terminusArrhythmia (14)
590-A C-terminusArrhythmia (8)
591-R C-terminusArrhythmia (18)
593-N C-terminusOther Cardiac (1)
594-R C-terminusArrhythmia (21)
595-V C-terminusProb. Benign (0)
596-E C-terminusArrhythmia (1)
598-K C-terminusOther Cardiac (2)
600-T C-terminusArrhythmia (6)
602-L C-terminusArrhythmia (1)
604-Q C-terminusNone
606-L C-terminusNone2 KCNQ2 - Epilepsy, benign neonatal
609-I C-terminusArrhythmia (1)
610-T C-terminusNone
611-D C-terminusArrhythmia (9)
612-M C-terminusNone
613-L C-terminusProb. Benign (0)
619-L C-terminusArrhythmia (4)
621-G C-terminusOther Cardiac (3)
623-S C-terminusProb. Benign (0)
625-P C-terminusProb. Benign (0)
626-G C-terminusArrhythmia (3)
628-G C-terminusProb. Benign (0)
629-G C-terminusProb. Benign (1)
630-P C-terminusArrhythmia (1)
631-P C-terminusNone1 KCNQ4 - Deafness
635-G C-terminusArrhythmia (2)
641-P C-terminusProb. Benign (0)
642-C C-terminusNone
643-G C-terminusConflict (11)
646-G C-terminusProb. Benign (0)
648-V C-terminusBenign (2)
649-D C-terminusProb. Benign (0)
655-P C-terminusProb. Benign (0)
656-S C-terminusProb. Benign (0)2 KCND2 - J-wave syndrome with sudden cardiac death
657-N C-terminusProb. Benign (0)
658-T C-terminusProb. Benign (0)
660-P C-terminusNone
663-E C-terminusProb. Benign (0)
667-V C-terminusProb. Benign (0)
670-R C-terminusArrhythmia (2)
672-P C-terminusProb. Benign (0)
674-E C-terminusProb. Benign (0)