No paralogue variants have been mapped to residue 840 for KCNH2.
KCNH2 | -P----GKSNGDVRALTYCDLHKIHRDDLL>E<VLDMYPEFSDHFWSSL--EIT-FNLRDTNM | 867 |
KCNH1 | -L----AQSCANVRALTYCDLHVIKRDALQ>K<VLEFYTAFSHSFSRNL--ILT-YNLRKRIV | 706 |
KCNH3 | -V----VKANADVKGLTYCVLQCLQLAGLH>D<SLALYPEFAPRFSRGLRGELS-YNLGAGGG | 709 |
KCNH4 | ADPNFVLKTSADVKALTYCGLQQLSSRGLA>E<VLRLYPEYGAAFRAGLPRDLT-FNLRQGSD | 693 |
KCNH5 | -L----AHACANVRALTYCDLHIIKREALL>K<VLDFYTAFANSFSRNL--TLT-CNLRKRII | 675 |
KCNH6 | -P----GKSSADVRALTYCDLHKIQRADLL>E<VLDMYPAFAESFWSKL--EVT-FNLRDAAG | 719 |
KCNH7 | -P----GKSNADVRALTYCDLHKIQREDLL>E<VLDMYPEFSDHFLTNL--ELT-FNLRHESA | 870 |
KCNH8 | -V----IKTNADVKALTYCDLQCIILKGLF>E<VLDLYPEYAHKFVEDIQHDLT-YNLREGHE | 678 |
CNGA1 | -G----NRRTANIKSIGYSDLFCLSKDDLM>E<ALTEYPDAKTMLEEKGKQILMKDGLLDLNI | 613 |
CNGA2 | -G----NRRTANIRSLGYSDLFCLSKDDLM>E<AVTEYPDAKKVLEERGREILMKEGLLDENE | 588 |
CNGA3 | -G----NRRTANIRSIGYSDLFCLSKDDLM>E<ALTEYPEAKKALEEKGRQILMKDNLIDEEL | 616 |
CNGA4 | -G----NRRTANIKSLGYSDLFCLSKEDLR>E<VLSEYPQAQTIMEEKGREILLKMNKLDVNA | 482 |
CNGB1 | -G----NRRTANVVAHGFTNLFILDKKDLN>E<ILVHYPESQKLLRKKARRMLRSNNKPK--- | 1091 |
CNGB3 | -G----NRRTANVVAHGFANLLTLDKKTLQ>E<ILVHYPDSERILMKKARVLLKQKAKTA-EA | 655 |
HCN1 | -------RRTASVRADTYCRLYSLSVDNFN>E<VLEEYPMMRRAFETVAIDRLDRIGKKNSIL | 601 |
HCN2 | -------RRTASVRADTYCRLYSLSVDNFN>E<VLEEYPMMRRAFETVAIDRLDRIGKKNSIL | 670 |
HCN3 | -------RRTASVRADTYCRLYSLSVDHFN>A<VLEEFPMMRRAFETVAMDRLLRIGKKNSIL | 554 |
HCN4 | -------RRTASVRADTYCRLYSLSVDNFN>E<VLEEYPMMRRAFETVALDRLDRIGKKNSIL | 721 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E840Q | c.2518G>C | Putative Benign | SIFT: Polyphen: |