Paralogue Annotation for KCNQ1 residue 105

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 105
Reference Amino Acid: H - Histidine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNQ1 residue 105

No paralogue variants have been mapped to residue 105 for KCNQ1.

KCNQ1	PRPPVSL------DPRVSIYSTRRPVLART>H<------------------------------	105
KCNQ2	PRAGG--AGAGK-PPKRNAFYRK------->-<------------------------------	76
KCNQ3	IGL-LAKTPLSRPVKRNNAKYRR------->-<------------------------------	106
KCNQ4	PGSGSGSACGQR-SSAAHKRYRR------->-<------------------------------	82
KCNQ5	LGKPL-SYTSSQ-SCRRNVKYRR------->-<------------------------------	110
KCNA1	LGEEAME----K--FREDEGF--------->-<-----------------------------I	137
KCNA10	LGSEAMD----Q--FREDEGF--------->-<-----------------------------I	186
KCNA2	LGEEAME----M--FREDEGY--------->-<-----------------------------I	133
KCNA3	LGEEAME----K--FREDEGF--------->-<-----------------------------L	204
KCNA4	LGEEALL----K--FREDEGF--------->-<-----------------------------V	276
KCNA5	LGDEAME----R--FREDEGF--------->-<-----------------------------I	220
KCNA6	LGDEALA----A--FREDEGC--------->-<-----------------------------L	141
KCNA7	LGAAALA----R--LREDEGC--------->-<-----------------------------P	113
KCNB1	IDEIYLE----S--CCQARYHQKKEQMNEE>L<KREAE----------T--------------	154
KCNB2	IDEIYLE----S--CCQARYHQKKEQMNEE>L<RREAE----------T--------------	158
KCNC1	IDETDVE----P--CCWMTYRQHRDAEEAL>D<SFGGAPLDNSADDADADGPGDSG-DG----	145
KCNC2	IDETDVE----P--CCWMTYRQHRDAEEAL>D<IFETPDLI-------GGDPGD----D----	182
KCNC3	IDETDVE----A--CCWMTYRQHRDAEEAL>D<SFEAPDPAGAANAANAAGAHDGGLDDE-AG	229
KCNC4	IDETDVE----P--CCWMTYRQHRDAEEAL>D<IFESPDG-----GGSGAGPSDEAGDD----	180
KCND1	LVPELVG----D--CCLEEYRDRKKENAER>L<AEDEEA------------------------	153
KCND2	LIPEIIG----D--CCYEEYKDRRRENAER>L<QDDADT------------------------	154
KCND3	ILPEIIG----D--CCYEEYKDRKRENAER>L<MDDNDS------------------------	153
KCNF1	VDLKFLD----D--CCKSHLSEKREELEEI>A<RRVQL-------------------------	147
KCNG1	IAEDHLD----G--CCKRRYLQKIEEFAEM>V<EREEED-----------D------A-LDSE	192
KCNG2	IDEARLE----R--CCLRRLRRREEEAAEA>R<AGPTER----------------------GA	142
KCNG3	LEGAHLE----Y--CCQRRLDDRMSDTYTF>Y<SADEPG----------------------VL	135
KCNG4	IEEAHLE----R--CCLRKLLRKLEELEEL>A<KLHRED--------------------VLRQ	186
KCNS1	LGENALA----A--CCRARYLERRLTQ-PH>A<WDEDSD---------TPSSVDPC-PDE-IS	185
KCNS2	INEFFID----S--CCSYSYHGRKVEPEQE>K<WDEQSD---------QES-TTSS-FDE-IL	152
KCNS3	INELFID----S--CCSNRYQERKEENHEK>D<WDQKSH---------DVS-TDSS-FEE-SS	150
KCNV1	IDELSID----S--CCRDRYFRRKE-LSET>L<DFKKD----------T----------EDQE	175
KCNV2	VRLKYTP----R--CCRICFEERRDELSER>L<KIQHE--------------------LRAQA	224
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H105L	c.314A>T	Inherited Arrhythmia	LQTS	rs199473447	SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study. Int J Legal Med. 2006 120(3):129-37. 16012827