Paralogue Annotation for KCNQ1 residue 234

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 234
Reference Amino Acid: Q - Glutamine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 234

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNC3R420HSpinocerebellar ataxia 13Medium9 16501573, 18592334, 20712895, 21543613, 22289912, 23215817, 22736459, 23734863, 23912307, 24116147, 25152487, 25756792

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-------------SKGQVFATSAIRGIRFL>Q<ILRMLHVDRQGGTWRLLGSVVFIHRQELIT264
KCNQ2-------------SQGNVFATSALRSLRFL>Q<ILRMIRMDRRGGTWKLLGSVVYAHSKELVT234
KCNQ3-------------NQGNVLA-TSLRSLRFL>Q<ILRMLRMDRRGGTWKLLGSAICAHSKELIT263
KCNQ4-------------TQGNIFATSALRSMRFL>Q<ILRMVRMDRRGGTWKLLGSVVYAHSKELIT240
KCNQ5-------------TQGNIFATSALRSLRFL>Q<ILRMVRMDRRGGTWKLLGSVVYAHSKELIT268
KCNA1QEG-------N-QKGEQATSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGQTLKASMRELGL328
KCNA10ETEP---------SAQQNMSLAILRIIRLV>R<VFRIFKLSRHSKGLQILGQTLKASMRELGL377
KCNA2KPE-------DAQQGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGQTLKASMRELGL330
KCNA3RQ----------GNGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGQTLKASMRELGL400
KCNA4QQGG------GNGQQQQAMSFAILRIIRLV>R<VFRIFKLSRHSKGLQILGHTLRASMRELGL480
KCNA5QQ---PGGGGGGQNGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGKTLQASMRELGL436
KCNA6QQEQQPASGGGGQNGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGKTLQASMRELGL378
KCNA7QR----------GVGQQAMSLAILRVIRLV>R<VFRIFKLSRHSKGLQILGQTLRASMRELGL314
KCNB1--N--------KSVLQFQNVRRVVQIFRIM>R<ILRILKLARHSTGLQSLGFTLRRSYNELGL333
KCNB2--N--------KSVLQFQNVRRVVQIFRIM>R<ILRILKLARHSTGLQSLGFTLRRSYNELGL337
KCNC1-----------LSSKAAKDVLGFLRVVRFV>R<ILRIFKLTRHFVGLRVLGHTLRASTNEFLL347
KCNC2-----------LSSKAAKDVLGFLRVVRFV>R<ILRIFKLTRHFVGLRVLGHTLRASTNEFLL384
KCNC3-----------LSSKAAKDVLGFLRVVRFV>R<ILRIFKLTRHFVGLRVLGHTLRASTNEFLL450
KCNC4-----------LSSKAARDVLGFLRVVRFV>R<ILRIFKLTRHFVGLRVLGHTLRASTNEFLL383
KCND1---------------KNDDVSGAFVTLRVF>R<VFRIFKFSRHSQGLRILGYTLKSCASELGF328
KCND2---------------DNEDVSGAFVTLRVF>R<VFRIFKFSRHSQGLRILGYTLKSCASELGF326
KCND3---------------NNEDVSGAFVTLRVF>R<VFRIFKFSRHSQGLRILGYTLKSCASELGF323
KCNF1----------GARMMELTNVQQAVQALRIM>R<IARIFKLARHSSGLQTLTYALKRSFKELGL326
KCNG1AGRR----KPGAGNSYLDKVGLVLRVLRAL>R<ILYVMRLARHSLGLQTLGLTARRCTREFGL379
KCNG2---A----AGPGGTKLLERAGLVLRLLRAL>R<VLYVMRLARHSLGLRSLGLTMRRCAREFGL324
KCNG3---------FTGENSQLQRAGVTLRVLRMM>R<IFWVIKLARHFIGLQTLGLTLKRCYREMVM325
KCNG4PEDG----ERPSGSSYLEKVGLVLRVLRAL>R<ILYVMRLARHSLGLQTLGLTVRRCTREFGL373
KCNS1G-D--------QGGKEFGHLGKVVQVFRLM>R<IFRVLKLARHSTGLRSLGATLKHSYREVGI378
KCNS2--V--------ESTPTLANLGRVAQVLRLM>R<IFRILKLARHSTGLRSLGATLKYSYKEVGL331
KCNS3--E--------EESEDIENMGKVVQILRLM>R<IFRILKLARHSVGLRSLGATLRHSYHEVGL326
KCNV1G-S--------QTTQELENVGRIVQVLRLL>R<ALRMLKLGRHSTGLRSLGMTITQCYEEVGL348
KCNV2GEGH----QRGQTVGSVGKVGQVLRVMRLM>R<IFRILKLARHSTGLRAFGFTLRQCYQQVGC413
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Gln234Argc.701A>G UnknownSIFT:
Polyphen: