Paralogue Annotation for KCNQ1 residue 340

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 340
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNQ1 residue 340

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNQ2	F305L	Epileptic encephalopathy, early infantile	High	9	25473036

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 KCNQ1.

KCNQ1	VTTIGYGDKVPQTWVGKTIASCFSVFAISF>F<ALPAGILGSGFALKVQQKQRQKHFNRQIPA	370
KCNQ2	LTTIGYGDKYPQTWNGRLLAATFTLIGVSF>F<ALPAGILGSGFALKVQEQHRQKHFEKRRNP	335
KCNQ3	LATIGYGDKTPKTWEGRLIAATFSLIGVSF>F<ALPAGILGSGLALKVQEQHRQKHFEKRRKP	374
KCNQ4	LTTIGYGDKTPHTWLGRVLAAGFALLGISF>F<ALPAGILGSGFALKVQEQHRQKHFEKRRMP	341
KCNQ5	LTTIGYGDKTPLTWLGRLLSAGFALLGISF>F<ALPAGILGSGFALKVQEQHRQKHFEKRRNP	369
KCNA1	MTTVGYGDMYPVTIGGKIVGSLCAIAGVLT>I<ALPVPVIVSNFNYFYHRETEGEEQAQLLH-	429
KCNA10	MTTVGYGDMCPTTPGGKIVGTLCAIAGVLT>I<ALPVPVIVSNFNYFYHRETENEEKQNIPGE	479
KCNA2	MTTVGYGDMVPTTIGGKIVGSLCAIAGVLT>I<ALPVPVIVSNFNYFYHRETEGEEQAQYLQ-	431
KCNA3	MTTVGYGDMHPVTIGGKIVGSLCAIAGVLT>I<ALPVPVIVSNFNYFYHRETEGEEQSQYMH-	501
KCNA4	MTTVGYGDMKPITVGGKIVGSLCAIAGVLT>I<ALPVPVIVSNFNYFYHRETENEEQTQLTQ-	581
KCNA5	MTTVGYGDMRPITVGGKIVGSLCAIAGVLT>I<ALPVPVIVSNFNYFYHRETDHEEPAVLKEE	538
KCNA6	MTTVGYGDMYPMTVGGKIVGSLCAIAGVLT>I<ALPVPVIVSNFNYFYHRETEQEEQGQYTHV	480
KCNA7	MTTVGYGDMAPVTVGGKIVGSLCAIAGVLT>I<SLPVPVIVSNFSYFYHRETEGEEAGMFSHV	416
KCNB1	MTTVGYGDIYPKTLLGKIVGGLCCIAGVLV>I<ALPIPIIVNNFSEFYKEQKRQEKAIKRREA	435
KCNB2	MTTVGYGDIYPKTLLGKIVGGLCCIAGVLV>I<ALPIPIIVNNFSEFYKEQKRQEKAIKRREA	439
KCNC1	MTTLGYGDMYPQTWSGMLVGALCALAGVLT>I<AMPVPVIVNNFGMYYSLAMAKQKLPKKKKK	458
KCNC2	MTTLGYGDMYPQTWSGMLVGALCALAGVLT>I<AMPVPVIVNNFGMYYSLAMAKQKLPRKRKK	495
KCNC3	MTTLGYGDMYPKTWSGMLVGALCALAGVLT>I<AMPVPVIVNNFGMYYSLAMAKQKLPKKKNK	561
KCNC4	MTTLGYGDMYPKTWSGMLVGALCALAGVLT>I<AMPVPVIVNNFGMYYSLAMAKQKLPKKRKK	494
KCND1	MTTLGYGDMVPSTIAGKIFGSICSLSGVLV>I<ALPVPVIVSNFSRIYHQNQRADKRRAQQKV	430
KCND2	MTTLGYGDMVPKTIAGKIFGSICSLSGVLV>I<ALPVPVIVSNFSRIYHQNQRADKRRAQKKA	428
KCND3	MTTLGYGDMVPKTIAGKIFGSICSLSGVLV>I<ALPVPVIVSNFSRIYHQNQRADKRRAQKKA	425
KCNF1	MTTVGYGDIYPKTTLGKLNAAISFLCGVIA>I<ALPIHPIINNFVRYYNKQRVLETAAKHELE	428
KCNG1	MTTVGYGDMVPRSTPGQVVALSSILSGILL>M<AFPVTSIFHTFSRSYLELKQEQERVMFRRA	482
KCNG2	MTTVGYGDMVPRSLPGQVVALSSILSGILL>M<AFPVTSIFHTFSRSYSELKEQQQRAASPEP	427
KCNG3	MTTVGYGDMYPITVPGRILGGVCVVSGIVL>L<ALPITFIYHSFVQCYHELKFRSARYSR---	428
KCNG4	MTTVGYGDMVPRSVPGQMVALSSILSGILI>M<AFPATSIFHTFSHSYLELKKEQEQLQARLR	476
KCNS1	MTTVGYGDVVPVTVAGKLAASGCILGGILV>V<ALPITIIFNKFSHFYRRQKALEAAVRNSNH	479
KCNS2	MTTVGYGDVVPGTTAGKLTASACILAGILV>V<VLPITLIFNKFSHFYRRQKQLESAMRSCDF	432
KCNS3	MTTVGYGDTHPVTLAGKLIASTCIICGILV>V<ALPITIIFNKFSKYYQKQKDIDVDQCSEDA	428
KCNV1	MTTVGYGDIRPDTTTGKIVAFMCILSGILV>L<ALPIAIINDRFSACYFTLKLKEAAVRQREA	450
KCNV2	ISTVGYGDMYPETHLGRFFAFLCIAFGIIL>N<GMPISILYNKFSDYYSKLKAYEYTTIRRER	515
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F340S	c.1019T>C	Putative Benign			SIFT: Polyphen:
p.F340L	c.1020T>G	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715