Paralogue Annotation for KCNQ1 residue 245

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 245
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 245

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2G215REpileptic encephalopathy, neonatalHigh9 25566516

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--SKGQVFATSAIRGIRFLQILRMLHVDRQ>G<GTWRLLGSVVFIHRQELITTLYIGFLGLIF275
KCNQ2--SQGNVFATSALRSLRFLQILRMIRMDRR>G<GTWKLLGSVVYAHSKELVTAWYIGFLCLIL245
KCNQ3--NQGNVLA-TSLRSLRFLQILRMLRMDRR>G<GTWKLLGSAICAHSKELITAWYIGFLTLIL274
KCNQ4--TQGNIFATSALRSMRFLQILRMVRMDRR>G<GTWKLLGSVVYAHSKELITAWYIGFLVLIF251
KCNQ5--TQGNIFATSALRSLRFLQILRMVRMDRR>G<GTWKLLGSVVYAHSKELITAWYIGFLVLIF279
KCNA1-QKGEQATSLAILRVIRLVRVFRIFKLSRH>S<KGLQILGQTLKASMRELGLLIFFLFIGVIL339
KCNA10--SAQQNMSLAILRIIRLVRVFRIFKLSRH>S<KGLQILGQTLKASMRELGLLIFFLFIGVIL388
KCNA2AQQGQQAMSLAILRVIRLVRVFRIFKLSRH>S<KGLQILGQTLKASMRELGLLIFFLFIGVIL341
KCNA3-GNGQQAMSLAILRVIRLVRVFRIFKLSRH>S<KGLQILGQTLKASMRELGLLIFFLFIGVIL411
KCNA4NGQQQQAMSFAILRIIRLVRVFRIFKLSRH>S<KGLQILGHTLRASMRELGLLIFFLFIGVIL491
KCNA5GQNGQQAMSLAILRVIRLVRVFRIFKLSRH>S<KGLQILGKTLQASMRELGLLIFFLFIGVIL447
KCNA6GQNGQQAMSLAILRVIRLVRVFRIFKLSRH>S<KGLQILGKTLQASMRELGLLIFFLFIGVIL389
KCNA7-GVGQQAMSLAILRVIRLVRVFRIFKLSRH>S<KGLQILGQTLRASMRELGLLIFFLFIGVVL325
KCNB1KSVLQFQNVRRVVQIFRIMRILRILKLARH>S<TGLQSLGFTLRRSYNELGLLILFLAMGIMI344
KCNB2KSVLQFQNVRRVVQIFRIMRILRILKLARH>S<TGLQSLGFTLRRSYNELGLLILFLAMGIMI348
KCNC1LSSKAAKDVLGFLRVVRFVRILRIFKLTRH>F<VGLRVLGHTLRASTNEFLLLIIFLALGVLI358
KCNC2LSSKAAKDVLGFLRVVRFVRILRIFKLTRH>F<VGLRVLGHTLRASTNEFLLLIIFLALGVLI395
KCNC3LSSKAAKDVLGFLRVVRFVRILRIFKLTRH>F<VGLRVLGHTLRASTNEFLLLIIFLALGVLI461
KCNC4LSSKAARDVLGFLRVVRFVRILRIFKLTRH>F<VGLRVLGHTLRASTNEFLLLIIFLALGVLI394
KCND1----KNDDVSGAFVTLRVFRVFRIFKFSRH>S<QGLRILGYTLKSCASELGFLLFSLTMAIII339
KCND2----DNEDVSGAFVTLRVFRVFRIFKFSRH>S<QGLRILGYTLKSCASELGFLLFSLTMAIII337
KCND3----NNEDVSGAFVTLRVFRVFRIFKFSRH>S<QGLRILGYTLKSCASELGFLLFSLTMAIII334
KCNF1ARMMELTNVQQAVQALRIMRIARIFKLARH>S<SGLQTLTYALKRSFKELGLLLMYLAVGIFV337
KCNG1AGNSYLDKVGLVLRVLRALRILYVMRLARH>S<LGLQTLGLTARRCTREFGLLLLFLCVAIAL390
KCNG2GGTKLLERAGLVLRLLRALRVLYVMRLARH>S<LGLRSLGLTMRRCAREFGLLLLFLCVAMAL335
KCNG3GENSQLQRAGVTLRVLRMMRIFWVIKLARH>F<IGLQTLGLTLKRCYREMVMLLVFICVAMAI336
KCNG4SGSSYLEKVGLVLRVLRALRILYVMRLARH>S<LGLQTLGLTVRRCTREFGLLLLFLAVAITL384
KCNS1QGGKEFGHLGKVVQVFRLMRIFRVLKLARH>S<TGLRSLGATLKHSYREVGILLLYLAVGVSV389
KCNS2ESTPTLANLGRVAQVLRLMRIFRILKLARH>S<TGLRSLGATLKYSYKEVGLLLLYLSVGISI342
KCNS3EESEDIENMGKVVQILRLMRIFRILKLARH>S<VGLRSLGATLRHSYHEVGLLLLFLSVGISI337
KCNV1QTTQELENVGRIVQVLRLLRALRMLKLGRH>S<TGLRSLGMTITQCYEEVGLLLLFLSVGISI359
KCNV2QTVGSVGKVGQVLRVMRLMRIFRILKLARH>S<TGLRAFGFTLRQCYQQVGCLLLFIAMGIFT424
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G245Vc.734G>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067