Paralogue Annotation for KCNQ1 residue 219

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 219
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNQ1 residue 219

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNQ2	G189V	Epileptic encephalopathy, early-onset	High	4	23692823

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	VVVASMVVLCVG----------------SK>G<QVFATSAIRGIRFLQILRMLHVDRQGGTWR	249
KCNQ2	VLIASIAVLAAG----------------SQ>G<NVFATSALRSLRFLQILRMIRMDRRGGTWK	219
KCNQ3	VLIASVPVVAVG----------------NQ>G<NVLA-TSLRSLRFLQILRMLRMDRRGGTWK	248
KCNQ4	VFVASVAVIAAG----------------TQ>G<NIFATSALRSMRFLQILRMVRMDRRGGTWK	225
KCNQ5	VLIASIAVVSAK----------------TQ>G<NIFATSALRSLRFLQILRMVRMDRRGGTWK	253
KCNA1	AIIPYFITLGTEIAEQEG-------N-QKG>E<QATSLAILRVIRLVRVFRIFKLSRHSKGLQ	313
KCNA10	SIIPYFATLITELVQETEP---------SA>Q<QNMSLAILRIIRLVRVFRIFKLSRHSKGLQ	362
KCNA2	AIIPYFITLGTELAEKPE-------DAQQG>Q<QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ	315
KCNA3	AIIPYFITLGTELAERQ----------GNG>Q<QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ	385
KCNA4	SILPYFITLGTDLAQQQGG------GNGQQ>Q<QAMSFAILRIIRLVRVFRIFKLSRHSKGLQ	465
KCNA5	AIFPYFITLGTELAEQQ---PGGGGGGQNG>Q<QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ	421
KCNA6	AIFPYFITLGTELVQQQEQQPASGGGGQNG>Q<QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ	363
KCNA7	AILPYFVALGTELARQR----------GVG>Q<QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ	299
KCNB1	AILPYYVTIFLTES---N--------KSVL>Q<FQNVRRVVQIFRIMRILRILKLARHSTGLQ	318
KCNB2	AILPYYVTIFLTES---N--------KSVL>Q<FQNVRRVVQIFRIMRILRILKLARHSTGLQ	322
KCNC1	AILPFYLEVGLSG-------------LSSK>A<AKDVLGFLRVVRFVRILRIFKLTRHFVGLR	332
KCNC2	AILPFYLEVGLSG-------------LSSK>A<AKDVLGFLRVVRFVRILRIFKLTRHFVGLR	369
KCNC3	AILPFYLEVGLSG-------------LSSK>A<AKDVLGFLRVVRFVRILRIFKLTRHFVGLR	435
KCNC4	AILPFYLEVGLSG-------------LSSK>A<ARDVLGFLRVVRFVRILRIFKLTRHFVGLR	368
KCND1	AILPYYIGLLVP------------------>K<NDDVSGAFVTLRVFRVFRIFKFSRHSQGLR	313
KCND2	AILPYYIGLVMT------------------>D<NEDVSGAFVTLRVFRVFRIFKFSRHSQGLR	311
KCND3	AIMPYYIGLVMT------------------>N<NEDVSGAFVTLRVFRVFRIFKFSRHSQGLR	308
KCNF1	AILPFYVSLTLTHL-----------GARMM>E<LTNVQQAVQALRIMRIARIFKLARHSSGLQ	311
KCNG1	AILPYYITLLVDGAAAGRR----KPGAGNS>Y<LDKVGLVLRVLRALRILYVMRLARHSLGLQ	364
KCNG2	ALLPFYVSLLLGL-----A----AGPGGTK>L<LERAGLVLRLLRALRVLYVMRLARHSLGLR	309
KCNG3	AITPYYISVLMTV-----------FTGENS>Q<LQRAGVTLRVLRMMRIFWVIKLARHFIGLQ	310
KCNG4	AISPYYVSLAVSEEPPEDG----ERPSGSS>Y<LEKVGLVLRVLRALRILYVMRLARHSLGLQ	358
KCNS1	SVLPFYLTLLAGVALG-D--------QGGK>E<FGHLGKVVQVFRLMRIFRVLKLARHSTGLR	363
KCNS2	SIVPFYITLVVNLV---V--------ESTP>T<LANLGRVAQVLRLMRIFRILKLARHSTGLR	316
KCNS3	SIIPFYATLAVDTK---E--------EESE>D<IENMGKVVQILRLMRIFRILKLARHSVGLR	311
KCNV1	AILPFYITLLVESLSG-S--------QTTQ>E<LENVGRIVQVLRLLRALRMLKLGRHSTGLR	333
KCNV2	AILPLYLQLLLECFTGEGH----QRGQTVG>S<VGKVGQVLRVMRLMRIFRILKLARHSTGLR	398
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G219E	c.656G>A	Putative Benign			SIFT: Polyphen: