Paralogue Annotation for KCNQ1 residue 329

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 329
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNQ1 residue 329

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNQ2	A294G	Epilepsy, benign neonatal	High	9	17129708, 26007637
KCNQ2	A294V	Epileptic encephalopathy, early-onset	High	9	23692823, 23621294, 25052858, 26007637

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	YADALWWGVVTVTTIGYGDKVPQTWVGKTI>A<SCFSVFAISFFALPAGILGSGFALKVQQKQ	359
KCNQ2	YADALWWGLITLTTIGYGDKYPQTWNGRLL>A<ATFTLIGVSFFALPAGILGSGFALKVQEQH	324
KCNQ3	YADALWWGLITLATIGYGDKTPKTWEGRLI>A<ATFSLIGVSFFALPAGILGSGLALKVQEQH	363
KCNQ4	YADSLWWGTITLTTIGYGDKTPHTWLGRVL>A<AGFALLGISFFALPAGILGSGFALKVQEQH	330
KCNQ5	YADALWWGTITLTTIGYGDKTPLTWLGRLL>S<AGFALLGISFFALPAGILGSGFALKVQEQH	358
KCNA1	IPDAFWWAVVSMTTVGYGDMYPVTIGGKIV>G<SLCAIAGVLTIALPVPVIVSNFNYFYHRET	419
KCNA10	IPDGFWWAVVTMTTVGYGDMCPTTPGGKIV>G<TLCAIAGVLTIALPVPVIVSNFNYFYHRET	468
KCNA2	IPDAFWWAVVSMTTVGYGDMVPTTIGGKIV>G<SLCAIAGVLTIALPVPVIVSNFNYFYHRET	421
KCNA3	IPDAFWWAVVTMTTVGYGDMHPVTIGGKIV>G<SLCAIAGVLTIALPVPVIVSNFNYFYHRET	491
KCNA4	IPDAFWWAVVTMTTVGYGDMKPITVGGKIV>G<SLCAIAGVLTIALPVPVIVSNFNYFYHRET	571
KCNA5	IPDAFWWAVVTMTTVGYGDMRPITVGGKIV>G<SLCAIAGVLTIALPVPVIVSNFNYFYHRET	527
KCNA6	IPDAFWWAVVTMTTVGYGDMYPMTVGGKIV>G<SLCAIAGVLTIALPVPVIVSNFNYFYHRET	469
KCNA7	IPESFWWAVVTMTTVGYGDMAPVTVGGKIV>G<SLCAIAGVLTISLPVPVIVSNFSYFYHRET	405
KCNB1	IPASFWWATITMTTVGYGDIYPKTLLGKIV>G<GLCCIAGVLVIALPIPIIVNNFSEFYKEQK	424
KCNB2	IPASFWWATITMTTVGYGDIYPKTLLGKIV>G<GLCCIAGVLVIALPIPIIVNNFSEFYKEQK	428
KCNC1	IPIGFWWAVVTMTTLGYGDMYPQTWSGMLV>G<ALCALAGVLTIAMPVPVIVNNFGMYYSLAM	447
KCNC2	IPIGFWWAVVTMTTLGYGDMYPQTWSGMLV>G<ALCALAGVLTIAMPVPVIVNNFGMYYSLAM	484
KCNC3	IPIGFWWAVVTMTTLGYGDMYPKTWSGMLV>G<ALCALAGVLTIAMPVPVIVNNFGMYYSLAM	550
KCNC4	IPIGFWWAVVTMTTLGYGDMYPKTWSGMLV>G<ALCALAGVLTIAMPVPVIVNNFGMYYSLAM	483
KCND1	IPAAFWYTIVTMTTLGYGDMVPSTIAGKIF>G<SICSLSGVLVIALPVPVIVSNFSRIYHQNQ	419
KCND2	IPAAFWYTIVTMTTLGYGDMVPKTIAGKIF>G<SICSLSGVLVIALPVPVIVSNFSRIYHQNQ	417
KCND3	IPASFWYTIVTMTTLGYGDMVPKTIAGKIF>G<SICSLSGVLVIALPVPVIVSNFSRIYHQNQ	414
KCNF1	IPQSFWWAIITMTTVGYGDIYPKTTLGKLN>A<AISFLCGVIAIALPIHPIINNFVRYYNKQR	417
KCNG1	IPACYWWAVITMTTVGYGDMVPRSTPGQVV>A<LSSILSGILLMAFPVTSIFHTFSRSYLELK	471
KCNG2	VPASYWWAVISMTTVGYGDMVPRSLPGQVV>A<LSSILSGILLMAFPVTSIFHTFSRSYSELK	416
KCNG3	IPAACWWVIISMTTVGYGDMYPITVPGRIL>G<GVCVVSGIVLLALPITFIYHSFVQCYHELK	420
KCNG4	IPASYWWAIISMTTVGYGDMVPRSVPGQMV>A<LSSILSGILIMAFPATSIFHTFSHSYLELK	465
KCNS1	IPACWWWGTVSMTTVGYGDVVPVTVAGKLA>A<SGCILGGILVVALPITIIFNKFSHFYRRQK	468
KCNS2	IPACWWWATVSMTTVGYGDVVPGTTAGKLT>A<SACILAGILVVVLPITLIFNKFSHFYRRQK	421
KCNS3	IPICWWWATISMTTVGYGDTHPVTLAGKLI>A<STCIICGILVVALPITIIFNKFSKYYQKQK	417
KCNV1	VPCAWWWATTSMTTVGYGDIRPDTTTGKIV>A<FMCILSGILVLALPIAIINDRFSACYFTLK	439
KCNV2	IPHSWWWAAVSISTVGYGDMYPETHLGRFF>A<FLCIAFGIILNGMPISILYNKFSDYYSKLK	504
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A329V	c.986C>T	Putative Benign		rs200436951	SIFT: deleterious Polyphen: probably damaging
p.A329T	c.985G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging