Paralogue Annotation for KCNQ1 residue 107

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 107
Reference Amino Acid: Q - Glutamine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNQ1 residue 107

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNV2	R243W	Cone dystrophy with supernormal rod ERG	Medium	7	21882291

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.

KCNQ1	-----------------------------V>Q<GRVYNFLERPT-GWKCFVYHFAVFLIVLVC	136
KCNQ2	-----------------------------L>Q<NFLYNVLERPR-G-WAFIYHAYVFLLVFSC	106
KCNQ3	-----------------------------I>Q<TLIYDALERPR-G-WALLYHALVFLIVLGC	136
KCNQ4	-----------------------------L>Q<NWVYNVLERPR-G-WAFVYHVFIFLLVFSC	112
KCNQ5	-----------------------------V>Q<NYLYNVLERPR-G-WAFIYHAFVFLLVFGC	140
KCNA1	------------------------P-EKEY>Q<RQVWLLFEYPESSGPARVIAIVSVMVILIS	180
KCNA10	------------------------P-TNDI>H<RQFWLLFEYPESSSAARAVAVVSVLVVVIS	229
KCNA2	------------------------P-ENEF>Q<RQVWLLFEYPESSGPARIIAIVSVMVILIS	176
KCNA3	------------------------P-RRDF>Q<RQVWLLFEYPESSGPARGIAIVSVLVILIS	247
KCNA4	------------------------P-ENEF>K<KQIWLLFEYPESSSPARGIAIVSVLVILIS	320
KCNA5	------------------------P-RNEF>Q<RQVWLIFEYPESSGSARAIAIVSVLVILIS	263
KCNA6	------------------------P-SQPF>Q<RQVWLLFEYPESSGPARGIAIVSVLVILIS	187
KCNA7	------------------------P-RRAF>A<RQLWLLFEFPESSQAARVLAVVSVLVILVS	156
KCNB1	------------F-------DNTC--CAEK>R<KKLWDLLEKPNSSVAAKILAIISIMFIVLS	202
KCNB2	------------F-------DNTC--CPDK>R<KKLWDLLEKPNSSVAAKILAIVSILFIVLS	206
KCNC1	ALSDS-----PDG-------RPGGF-WRRW>Q<PRIWALFEDPYSSRYARYVAFASLFFILVS	203
KCNC2	GIEDAAGLGGPDG-------KSGR--WRRL>Q<PRMWALFEDPYSSRAARFIAFASLFFILVS	242
KCNC3	CFQDAG--GGAGGPPGGAGGAGGTW-WRRW>Q<PRVWALFEDPYSSRAARYVAFASLFFILIS	303
KCNC4	GPHEGG--AGHGA-------GSGG--CRGW>Q<PRMWALFEDPYSSRAARVVAFASLFFILVS	239
KCND1	------------------------PAGSSL>R<QRLWRAFENPHTSTAALVFYYVTGFFIAVS	199
KCND2	------------------------PTMT-A>R<QRVWRAFENPHTSTMALVFYYVTGFFIAVS	198
KCND3	------------------------PSLS-F>R<QTMWRAFENPHTSTLALVFYYVTGFFIAVS	196
KCNF1	------------A-------AEGR--WRRC>Q<KCVWKFLEKPESSCPARVVAVLSFLLILVS	195
KCNG1	------------E-------GEGRL-GR-C>M<RRLRDMVERPHSGLPGKVFACLSVLFVTVT	240
KCNG2	------------G-------PRGRL-QR-G>R<RRLRDVVDNPHSGLAGKLFACVSVSFVAVT	190
KCNG3	------------G-------AEAAP-SRRW>L<ERMRRTFEEPTSSLAAQILASVSVVFVIVS	184
KCNG4	------------S-------HSSRW-GL-C>M<NRLREMVENPQSGLPGKVFACLSILFVATT	234
KCNS1	------------Y-------GAAR--CGRL>R<RRLWLTMENPGYSLPSKLFSCVSISVVLAS	233
KCNS2	------------F-------DGQP--LGNF>R<RQLWLALDNPGYSVLSRVFSILSILVVMGS	200
KCNS3	------------F-------DTLR--FGQL>R<KKIWIRMENPAYCLSAKLIAISSLSVVLAS	198
KCNV1	------------F-------SQGP--CPTV>R<QKLWNILEKPGSSTAARIFGVISIIFVVVS	223
KCNV2	------------F-------RDMRF-YGPQ>R<RRLWNLMEKPFSSVAAKAIGVASSTFVLVS	273
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Gln107His	c.321G>T	Unknown			SIFT: Polyphen: