No paralogue variants have been mapped to residue 51 for KCNQ1.
KCNQ1 | -P---------------------A--GGAL>Y<APIAPGAPGP--------APPASPAAPAAP | 73 |
KCNQ2 | -E---------------------------->-<----A-PK---------------RGSILS- | 55 |
KCNQ3 | -R---------------------------->-<--------DEG-----QR---R----TPQ- | 83 |
KCNQ4 | -P---------------------------->-<--RRLGLLGSP-----L------PPGAPLP | 59 |
KCNQ5 | -A---------------------------->-<--ATLGGGGGG-----LRESRRGKQGARMS | 88 |
KCNA1 | -------------KR-M---RYFDPLRNEY>F<FDRNRPSFDAILYYYQSGGRLRRPVNVPLD | 111 |
KCNA10 | -------------KR-M---QFFDSMRNEY>F<FDRNRPSFDGILYYYQSGGKIRRPANVPID | 160 |
KCNA2 | -------------KR-M---RYFDPLRNEY>F<FDRNRPSFDAILYYYQSGGRLRRPVNVPLD | 107 |
KCNA3 | -------------RR-M---RYFDPLRNEY>F<FDRNRPSFDAILYYYQSGGRIRRPVNVPID | 178 |
KCNA4 | -------------KR-T---QYFDPLRNEY>F<FDRNRPSFDAILYYYQSGGRLKRPVNVPFD | 250 |
KCNA5 | -------------KR-L---RYFDPLRNEY>F<FDRNRPSFDGILYYYQSGGRLRRPVNVSLD | 194 |
KCNA6 | -------------RR-V---RFFDPLRNEY>F<FDRNRPSFDAILYYYQSGGRLRRPVNVPLD | 115 |
KCNA7 | -------------RR-G---RFYDDARREY>F<FDRHRPSFDAVLYYYQSGGRLRRPAHVPLD | 87 |
KCNB1 | -HD----------SL-LEVCDDYSLDDNEY>F<FDRHPGAFTSILNFYRT-GRLHMMEEMCAL | 113 |
KCNB2 | -HE----------SL-LEVCDDYNLNENEY>F<FDRHPGAFTSILNFYRT-GKLHMMEEMCAL | 117 |
KCNC1 | ----------------S--HFDYDPRADEF>F<FDRHPGVFAHILNYYRT-GKLHCPADVCGP | 85 |
KCNC2 | -------------RGGR--ASDHPGGGREF>F<FDRHPGVFAYVLNYYRT-GKLHCPADVCGP | 132 |
KCNC3 | ----------------A--RFDYDPGADEF>F<FDRHPGVFAYVLNYYRT-GKLHCPADVCGP | 165 |
KCNC4 | ---------------GS--SGSSGGGGCEF>F<FDRHPGVFAYVLNYYRT-GKLHCPADVCGP | 124 |
KCND1 | -------------KE-F----FYDADSGEY>F<FDRDPDMFRHVLNFYRT-GRLHCPRQECIQ | 112 |
KCND2 | -------------RD-F----FYHPETQQY>F<FDRDPDIFRHILNFYRT-GKLHYPRHECIS | 113 |
KCND3 | -------------KE-F----FFNEDTKEY>F<FDRDPEVFRCVLNFYRT-GKLHYPRYECIS | 112 |
KCNF1 | GYD----------TI-FSLCDDYDPGKREF>Y<FDRDPDAFKCVIEVYYF-GEVHMKKGICPI | 107 |
KCNG1 | -FD----------DI-LNVCDDYDVTCNEF>F<FDRNPGAFGTILTFLRA-GKLRLLREMCAL | 145 |
KCNG2 | -HD----------DL-LRVCDDYDVSRDEF>F<FDRSPCAFRAIVALLRA-GKLRLLRGPCAL | 99 |
KCNG3 | -ER----------DV-LEVCDDYDRERNEY>F<FDRHSEAFGFILLYVRGHGKLRFAPRMCEL | 92 |
KCNG4 | -YE----------EI-VQLCDDYDEDSQEF>F<FDRSPSAFGVIVSFLAA-GKLVLLQEMCAL | 141 |
KCNS1 | -EE----------QA-RRLCDDYDEAAREF>Y<FDRHPGFFLSLLHFYRT-GHLHVLDELCVF | 132 |
KCNS2 | -RE----------AI-LELCDDYDDVQREF>Y<FDRNPELFPYVLHFYHT-GKLHVMAELCVF | 99 |
KCNS3 | -EE----------AI-LELCDDYSVADKEY>Y<FDRNPSLFRYVLNFYYT-GKLHVMEELCVF | 97 |
KCNV1 | -SYRRPGALAAVPSP-LELCDDANPVDNEY>F<FDRSSQAFRYVLHYYRT-GRLHVMEQLCAL | 131 |
KCNV2 | -RS----------RQ-LSLCDDYEEQTDEY>F<FDRDPAVFQLVYNFYLS-GVLLVLDGLCPR | 179 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y51C | c.152A>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 |