Paralogue Annotation for KCNQ1 residue 408

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 408
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 408

No paralogue variants have been mapped to residue 408 for KCNQ1.



KCNQ1--------------------------TLLS>P<SPKPKKSVVVKKKKFKLDKDNGV-------431
KCNQ2-AFRKDPPPE-PSP-SKG--SP-CRGPLCG>C<CPGRSSQKVSLKDRV-FSSPRGV-------450
KCNQ3----------------------------KE>Q<LEAASSQKLGLLDRVRLSNPRGS-------438
KCNQ4-EVRRAPVPD-GAP-SRYPPVATCHRPGST>S<FCPGESSRMGIKDRIRMGSSQRR-------448
KCNQ5--------------------LHTCSPTKKE>Q<GEASSSQKLSFKERVRMASPRGQ-------433
KCNA1-I------AHYRQV-NIR------------>-<------------------------------474
KCNA10----------G------------------->-<------------------------------502
KCNA2-D--------FREE-NLK------------>-<------------------------------478
KCNA3PQ------TPFKTG-N-S------------>-<------------------------------552
KCNA4-L------CAKEEKCQGK------------>-<------------------------------632
KCNA5-A------KSNVD----------------->-<------------------------------595
KCNA6-R------PSYLPT---------------->-<------------------------------515
KCNA7-----------LPP-P-------------->-<------------------------------443
KCNB1-Q------DNHLSPNKWKW----------->-<-----------TKRTLSETSSSK-------502
KCNB2-D------DNHLSPSRWKW----------->-<-----------ARKALSETSSNK-------506
KCNC1-E------VAKAALANED------------>-<------------------------------518
KCNC2------------VLSGDD------------>-<------------------------------544
KCNC3-D------PAAAALAHED------------>-<------------------------------676
KCNC4-D-------ANAVLSDEE------------>-<------------------------------554
KCND1-Q------HHHLLHCLEKT----------->-<----------------------T-------489
KCND2-Q------HHHLLHCLEKT----------->-<----------------------T-------489
KCND3-Q------HHHLLHCLEKT----------->-<----------------------TGLSYLVD494
KCNF1-S------RLKLSHSDTF------------>-<-----------------IPLLTE-------482
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1-P------QM-------------------->-<------------------------------525
KCNS2-N------DSL------------------->-<------------------------------476
KCNS3-D------ASSIEDNEDI------------>-<-----------------CNTTSL-------485
KCNV1-G------DDF------------------->-<-----------------W------------499
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P408Ac.1222C>G Benignrs28730756SIFT: tolerated
Polyphen: possibly damaging
ReportsBenign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839
Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300