No paralogue variants have been mapped to residue 276 for KCNQ1.
KCNQ1 | GTWRLLGSVVFIHRQELITTLYIGFLGLIF>S<SYFVYLAEKDAVN-----ESGRVEFGSYAD | 301 |
KCNQ2 | GTWKLLGSVVYAHSKELVTAWYIGFLCLIL>A<SFLVYLAEKGE----------NDHFDTYAD | 266 |
KCNQ3 | GTWKLLGSAICAHSKELITAWYIGFLTLIL>S<SFLVYLVEKDVPEVDAQGEEMKEEFETYAD | 305 |
KCNQ4 | GTWKLLGSVVYAHSKELITAWYIGFLVLIF>A<SFLVYLAEKDA----------NSDFSSYAD | 272 |
KCNQ5 | GTWKLLGSVVYAHSKELITAWYIGFLVLIF>S<SFLVYLVEKDA----------NKEFSTYAD | 300 |
KCNA1 | KGLQILGQTLKASMRELGLLIFFLFIGVIL>F<SSAVYFAEAEE---------AESHFSSIPD | 361 |
KCNA10 | KGLQILGQTLKASMRELGLLIFFLFIGVIL>F<SSAVYFAEVDE---------PESHFSSIPD | 410 |
KCNA2 | KGLQILGQTLKASMRELGLLIFFLFIGVIL>F<SSAVYFAEADE---------RESQFPSIPD | 363 |
KCNA3 | KGLQILGQTLKASMRELGLLIFFLFIGVIL>F<SSAVYFAEADD---------PTSGFSSIPD | 433 |
KCNA4 | KGLQILGHTLRASMRELGLLIFFLFIGVIL>F<SSAVYFAEADE---------PTTHFQSIPD | 513 |
KCNA5 | KGLQILGKTLQASMRELGLLIFFLFIGVIL>F<SSAVYFAEADN---------QGTHFSSIPD | 469 |
KCNA6 | KGLQILGKTLQASMRELGLLIFFLFIGVIL>F<SSAVYFAEADD---------DDSLFPSIPD | 411 |
KCNA7 | KGLQILGQTLRASMRELGLLIFFLFIGVVL>F<SSAVYFAEVDR---------VDSHFTSIPE | 347 |
KCNB1 | TGLQSLGFTLRRSYNELGLLILFLAMGIMI>F<SSLVFFAEKDE---------DDTKFKSIPA | 366 |
KCNB2 | TGLQSLGFTLRRSYNELGLLILFLAMGIMI>F<SSLVFFAEKDE---------DATKFTSIPA | 370 |
KCNC1 | VGLRVLGHTLRASTNEFLLLIIFLALGVLI>F<ATMIYYAERIGAQPNDPSASEHTHFKNIPI | 389 |
KCNC2 | VGLRVLGHTLRASTNEFLLLIIFLALGVLI>F<ATMIYYAERVGAQPNDPSASEHTQFKNIPI | 426 |
KCNC3 | VGLRVLGHTLRASTNEFLLLIIFLALGVLI>F<ATMIYYAERIGADPDDILGSNHTYFKNIPI | 492 |
KCNC4 | VGLRVLGHTLRASTNEFLLLIIFLALGVLI>F<ATMIYYAERIGARPSDPRGNDHTDFKNIPI | 425 |
KCND1 | QGLRILGYTLKSCASELGFLLFSLTMAIII>F<ATVMFYAEKGT---------NKTNFTSIPA | 361 |
KCND2 | QGLRILGYTLKSCASELGFLLFSLTMAIII>F<ATVMFYAEKGS---------SASKFTSIPA | 359 |
KCND3 | QGLRILGYTLKSCASELGFLLFSLTMAIII>F<ATVMFYAEKGS---------SASKFTSIPA | 356 |
KCNF1 | SGLQTLTYALKRSFKELGLLLMYLAVGIFV>F<SALGYTMEQSH---------PETLFKSIPQ | 359 |
KCNG1 | LGLQTLGLTARRCTREFGLLLLFLCVAIAL>F<APLLYVIENEM-----A---DSPEFTSIPA | 413 |
KCNG2 | LGLRSLGLTMRRCAREFGLLLLFLCVAMAL>F<APLVHLAEREL-----G---ARRDFSSVPA | 358 |
KCNG3 | IGLQTLGLTLKRCYREMVMLLVFICVAMAI>F<SALSQLLEHGL-----DLETSNKDFTSIPA | 362 |
KCNG4 | LGLQTLGLTVRRCTREFGLLLLFLAVAITL>F<SPLVYVAEKES-----G---RVLEFTSIPA | 407 |
KCNS1 | TGLRSLGATLKHSYREVGILLLYLAVGVSV>F<SGVAYTAEKEE----------DVGFNTIPA | 410 |
KCNS2 | TGLRSLGATLKYSYKEVGLLLLYLSVGISI>F<SVVAYTIEKEE----------NEGLATIPA | 363 |
KCNS3 | VGLRSLGATLRHSYHEVGLLLLFLSVGISI>F<SVLIYSVEKDD---------HTSSLTSIPI | 359 |
KCNV1 | TGLRSLGMTITQCYEEVGLLLLFLSVGISI>F<STVEYFAEQSI---------PDTTFTSVPC | 381 |
KCNV2 | TGLRAFGFTLRQCYQQVGCLLLFIAMGIFT>F<SAAVYSVEHDV---------PSTNFTTIPH | 446 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ser276Phe | c.827C>T | Unknown | SIFT: Polyphen: |