No paralogue variants have been mapped to residue 363 for KCNQ1.
KCNQ1 | SVFAISFFALPAGILGSGFALKVQQKQRQK>H<FNRQIPA--AASLI-QTAWRCY---A-A-E | 385 |
KCNQ2 | TLIGVSFFALPAGILGSGFALKVQEQHRQK>H<FEKRRNP--AAGLI-QSAWRFY---A-T-N | 350 |
KCNQ3 | SLIGVSFFALPAGILGSGLALKVQEQHRQK>H<FEKRRKP--AAELI-QAAWRYY---A-T-N | 389 |
KCNQ4 | ALLGISFFALPAGILGSGFALKVQEQHRQK>H<FEKRRMP--AANLI-QAAWRLY---S-T-D | 356 |
KCNQ5 | ALLGISFFALPAGILGSGFALKVQEQHRQK>H<FEKRRNP--AANLI-QCVWRSY---A-A-D | 384 |
KCNA1 | AIAGVLTIALPVPVIVSNFNYFYHRETEGE>E<QAQLLH-----VS--SP-NLAS---D-S-- | 439 |
KCNA10 | AIAGVLTIALPVPVIVSNFNYFYHRETENE>E<KQNIPGEIERI------------------- | 483 |
KCNA2 | AIAGVLTIALPVPVIVSNFNYFYHRETEGE>E<QAQYLQ-----VT--SCPKIPS---S-P-- | 442 |
KCNA3 | AIAGVLTIALPVPVIVSNFNYFYHRETEGE>E<QSQYMH-----VG--SCQHLSS-S-A-E-- | 513 |
KCNA4 | AIAGVLTIALPVPVIVSNFNYFYHRETENE>E<QTQLTQ-----NAV-SCPYLPS-N-LLK-- | 595 |
KCNA5 | AIAGVLTIALPVPVIVSNFNYFYHRETDHE>E<PAVLKEE--QGTQS-QGPGLDR-G-V-Q-R | 554 |
KCNA6 | AIAGVLTIALPVPVIVSNFNYFYHRETEQE>E<QGQYTHV-------------TC-G------ | 483 |
KCNA7 | AIAGVLTISLPVPVIVSNFSYFYHRETEGE>E<AGMFSHV-------------DM-Q-P-C-- | 421 |
KCNB1 | CIAGVLVIALPIPIIVNNFSEFYKEQKRQE>K<AIKRREA--LERA--KRNG---SIVS-M-N | 449 |
KCNB2 | CIAGVLVIALPIPIIVNNFSEFYKEQKRQE>K<AIKRREA--LERA--KRNG---SIVS-M-N | 453 |
KCNC1 | ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQ>K<LPKKKKK--HIPR--PPQLGSP---N-YCK | 473 |
KCNC2 | ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQ>K<LPRKRKK--HIPP--APQASSP---T-FCK | 510 |
KCNC3 | ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQ>K<LPKKKNK--HIPR--PPQPGSP---N-YCK | 576 |
KCNC4 | ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQ>K<LPKKRKK--HVPR--PAQLESP---M-YCK | 509 |
KCND1 | SLSGVLVIALPVPVIVSNFSRIYHQNQRAD>K<RRAQQKV--RLARIRLAKSGTT---N---A | 445 |
KCND2 | SLSGVLVIALPVPVIVSNFSRIYHQNQRAD>K<RRAQKKA--RLARIRAAKSGSA---N---A | 443 |
KCND3 | SLSGVLVIALPVPVIVSNFSRIYHQNQRAD>K<RRAQKKA--RLARIRVAKTGSS---N---A | 440 |
KCNF1 | FLCGVIAIALPIHPIINNFVRYYNKQRVLE>T<AAKHELE--LMEL--N------SSSG-G-E | 439 |
KCNG1 | ILSGILLMAFPVTSIFHTFSRSYLELKQEQ>E<RVMFRRA--QFLI----K-TKSQLSV---- | 494 |
KCNG2 | ILSGILLMAFPVTSIFHTFSRSYSELKEQQ>Q<RAASPEP--ALQE----D-STHSATA---- | 439 |
KCNG3 | VVSGIVLLALPITFIYHSFVQCYHELKFRS>A<RYSR-----------------SLSTE---- | 433 |
KCNG4 | ILSGILIMAFPATSIFHTFSHSYLELKKEQ>E<QLQARLR--HLQN----T-GPASECE-LLD | 491 |
KCNS1 | ILGGILVVALPITIIFNKFSHFYRRQKALE>A<AVRNSNH--QEFE--D------LLSS-I-D | 490 |
KCNS2 | ILAGILVVVLPITLIFNKFSHFYRRQKQLE>S<AMRSCDF--GDGM--K------EVPS-V-N | 443 |
KCNS3 | IICGILVVALPITIIFNKFSKYYQKQKDID>V<DQCSEDA--PEKC--H------ELPY-F-N | 439 |
KCNV1 | ILSGILVLALPIAIINDRFSACYFTLKLKE>A<AVRQREA--LKKL--TKNIATDSYIS-V-N | 467 |
KCNV2 | IAFGIILNGMPISILYNKFSDYYSKLKAYE>Y<TTIRRER--GEVN--F------MQRA-R-K | 526 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H363N | c.1087C>A | Inherited Arrhythmia | LQTS | rs199473408 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology. Med Biol Eng Comput. 2006 44(7):543-9. 16937190 | ||
Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | |||
Inherited Arrhythmia | LQTS | KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia. Diabetes. 2014 63(4):1315-25. doi: 10.2337/db13-1454. 24357532 |