No paralogue variants have been mapped to residue 644 for KCNH2.
KCNH2 | ALYFTFSSLTSVGFGNVSPNTNSEKIFSIC>V<MLIGSLMYASIFGNVSAIIQRLYSGTARYH | 674 |
KCNH1 | SLYFTMTSLTSVGFGNIAPSTDIEKIFAVA>I<MMIGSLLYATIFGNVTTIFQQMYANTNRYH | 513 |
KCNH3 | SLYFALSSLTSVGFGNVSANTDTEKIFSIC>T<MLIGALMHAVVFGNVTAIIQRMYARRFLYH | 515 |
KCNH4 | ALYFTLSSLTSVGFGNVCANTDAEKIFSIC>T<MLIGALMHAVVFGNVTAIIQRMYSRRSLYH | 489 |
KCNH5 | SLYFTMTSLTTIGFGNIAPTTDVEKMFSVA>M<MMVGSLLYATIFGNVTTIFQQMYANTNRYH | 482 |
KCNH6 | ALYFTFSSLTSVGFGNVSPNTNSEKVFSIC>V<MLIGSLMYASIFGNVSAIIQRLYSGTARYH | 526 |
KCNH7 | ALYFTFSSLTSVGFGNVSPNTNSEKIFSIC>V<MLIGSLMYASIFGNVSAIIQRLYSGTARYH | 677 |
KCNH8 | ALYFTLSSLTSVGFGNVSANTDAEKIFSIC>T<MLIGALMHALVFGNVTAIIQRMYSRWSLYH | 484 |
CNGA1 | SLYWSTLTLTTIG-ETPPPVRDSEYVFVVV>D<FLIGVLIFATIVGNIGSMISNMNAARAEFQ | 411 |
CNGA2 | CLYWSTLTLTTIG-ETPPPVKDEEYLFVIF>D<FLIGVLIFATIVGNVGSMISNMNATRAEFQ | 386 |
CNGA3 | SLYWSTLTLTTIG-ETPPPVKDEEYLFVVV>D<FLVGVLIFATIVGNVGSMISNMNASRAEFQ | 414 |
CNGA4 | SFYFSTLILTTVG-DTPPPAREEEYLFMVG>D<FLLAVMGFATIMGSMSSVIYNMNTADAAFY | 280 |
CNGB1 | CYYFAVKTLITIG-GLPDPKTLFEIVFQLL>N<YFTGVFAFSVMIGQMRDVVGAATAGQTYYR | 894 |
CNGB3 | CYYWAVRTLITIG-GLPEPQTLFEIVFQLL>N<FFSGVFVFSSLIGQMRDVIGAATANQNYFR | 456 |
HCN1 | ALFKAMSHMLCIGYGAQAPVSMSDLWITML>S<MIVGATCYAMFVGHATALIQSLDSSRRQYQ | 408 |
HCN2 | ALFKAMSHMLCIGYGRQAPESMTDIWLTML>S<MIVGATCYAMFIGHATALIQSLDSSRRQYQ | 477 |
HCN3 | ALFKAMSHMLCIGYGQQAPVGMPDVWLTML>S<MIVGATCYAMFIGHATALIQSLDSSRRQYQ | 361 |
HCN4 | ALFKAMSHMLCIGYGRQAPVGMSDVWLTML>S<MIVGATCYAMFIGHATALIQSLDSSRRQYQ | 528 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V644F | c.1930G>T | Inherited Arrhythmia | LQTS | rs199472972 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
p.V644L | c.1930G>C | Inherited Arrhythmia | LQTS | rs199472972 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
p.V644I | c.1930G>A | Putative Benign | SIFT: Polyphen: |