Paralogue Annotation for KCNQ1 residue 71

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 71
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNQ1 residue 71

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNV2	C177R	Cone dystrophy with supernormal rod ERG	Medium	8	23885164

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	ALYAPIAPGAPGP--------APPASPAAP>A<APPVASDL---GPRPPVSL------DPRVS	92
KCNQ2	-------A-PK---------------RGSI>L<S----------KPRAGG--AGAGK-PPKRN	71
KCNQ3	-----------DEG-----QR---R----T>P<Q----------GIGL-LAKTPLSRPVKRNN	101
KCNQ4	-----RRLGLLGSP-----L------PPGA>P<LP---------GPGSGSGSACGQR-SSAAH	77
KCNQ5	-----ATLGGGGGG-----LRESRRGKQGA>R<MS---------LLGKPL-SYTSSQ-SCRRN	105
KCNA1	EYFFDRNRPSFDAILYYYQSGGRLRRPVNV>P<LDMFSEEIKFYELGEEAME----K--FRED	133
KCNA10	EYFFDRNRPSFDGILYYYQSGGKIRRPANV>P<IDIFADEISFYELGSEAMD----Q--FRED	182
KCNA2	EYFFDRNRPSFDAILYYYQSGGRLRRPVNV>P<LDIFSEEIRFYELGEEAME----M--FRED	129
KCNA3	EYFFDRNRPSFDAILYYYQSGGRIRRPVNV>P<IDIFSEEIRFYQLGEEAME----K--FRED	200
KCNA4	EYFFDRNRPSFDAILYYYQSGGRLKRPVNV>P<FDIFTEEVKFYQLGEEALL----K--FRED	272
KCNA5	EYFFDRNRPSFDGILYYYQSGGRLRRPVNV>S<LDVFADEIRFYQLGDEAME----R--FRED	216
KCNA6	EYFFDRNRPSFDAILYYYQSGGRLRRPVNV>P<LDIFLEEIRFYQLGDEALA----A--FRED	137
KCNA7	EYFFDRHRPSFDAVLYYYQSGGRLRRPAHV>P<LDVFLEEVAFYGLGAAALA----R--LRED	109
KCNB1	EYFFDRHPGAFTSILNFYRT-GRLHMMEEM>C<ALSFSQELDYWGIDEIYLE----S--CCQA	135
KCNB2	EYFFDRHPGAFTSILNFYRT-GKLHMMEEM>C<ALSFGQELDYWGIDEIYLE----S--CCQA	139
KCNC1	EFFFDRHPGVFAHILNYYRT-GKLHCPADV>C<GPLYEEELAFWGIDETDVE----P--CCWM	107
KCNC2	EFFFDRHPGVFAYVLNYYRT-GKLHCPADV>C<GPLFEEELAFWGIDETDVE----P--CCWM	154
KCNC3	EFFFDRHPGVFAYVLNYYRT-GKLHCPADV>C<GPLFEEELGFWGIDETDVE----A--CCWM	187
KCNC4	EFFFDRHPGVFAYVLNYYRT-GKLHCPADV>C<GPLFEEELTFWGIDETDVE----P--CCWM	146
KCND1	EYFFDRDPDMFRHVLNFYRT-GRLHCPRQE>C<IQAFDEELAFYGLVPELVG----D--CCLE	134
KCND2	QYFFDRDPDIFRHILNFYRT-GKLHYPRHE>C<ISAYDEELAFFGLIPEIIG----D--CCYE	135
KCND3	EYFFDRDPEVFRCVLNFYRT-GKLHYPRYE>C<ISAYDDELAFYGILPEIIG----D--CCYE	134
KCNF1	EFYFDRDPDAFKCVIEVYYF-GEVHMKKGI>C<PICFKNEMDFWKVDLKFLD----D--CCKS	129
KCNG1	EFFFDRNPGAFGTILTFLRA-GKLRLLREM>C<ALSFQEELLYWGIAEDHLD----G--CCKR	167
KCNG2	EFFFDRSPCAFRAIVALLRA-GKLRLLRGP>C<ALAFRDELAYWGIDEARLE----R--CCLR	121
KCNG3	EYFFDRHSEAFGFILLYVRGHGKLRFAPRM>C<ELSFYNEMIYWGLEGAHLE----Y--CCQR	114
KCNG4	EFFFDRSPSAFGVIVSFLAA-GKLVLLQEM>C<ALSFQEELAYWGIEEAHLE----R--CCLR	163
KCNS1	EFYFDRHPGFFLSLLHFYRT-GHLHVLDEL>C<VFAFGQEADYWGLGENALA----A--CCRA	154
KCNS2	EFYFDRNPELFPYVLHFYHT-GKLHVMAEL>C<VFSFSQEIEYWGINEFFID----S--CCSY	121
KCNS3	EYYFDRNPSLFRYVLNFYYT-GKLHVMEEL>C<VFSFCQEIEYWGINELFID----S--CCSN	119
KCNV1	EYFFDRSSQAFRYVLHYYRT-GRLHVMEQL>C<ALSFLQEIQYWGIDELSID----S--CCRD	153
KCNV2	EYFFDRDPAVFQLVYNFYLS-GVLLVLDGL>C<PRRFLEELGYWGVRLKYTP----R--CCRI	201
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See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A71S	c.211G>T	Putative Benign			SIFT: Polyphen:
p.A71T	c.211G>A	Putative Benign			SIFT: Polyphen:
p.A71V	c.212C>T	Putative Benign			SIFT: Polyphen: