No paralogue variants have been mapped to residue 752 for KCNH2.
| KCNH2 | ECLQADICLHLNRSLLQHCKPFRGATKGCL>R<ALAMKFKTTHAPPGDTLVHAGDLLTALYFI | 782 |
| KCNH1 | KDMRADICVHLNRKVFKEHPAFRLASDGCL>R<ALAMEFQTVHCAPGDLIYHAGESVDSLCFV | 621 |
| KCNH3 | DELRADIAMHLHKEVL-QLPLFEAASRGCL>R<ALSLALRPAFCTPGEYLIHQGDALQALYFV | 622 |
| KCNH4 | DELRADIAMHLNREIL-QLPLFGAASRGCL>R<ALSLHIKTSFCAPGEYLLRRGDALQAHYYV | 596 |
| KCNH5 | KDMRADICVHLNRKVFNEHPAFRLASDGCL>R<ALAVEFQTIHCAPGDLIYHAGESVDALCFV | 590 |
| KCNH6 | ECLQADICLHLHRALLQHCPAFSGAGKGCL>R<ALAVKFKTTHAPPGDTLVHLGDVLSTLYFI | 634 |
| KCNH7 | ECLQADICLHLNQTLLQNCKAFRGASKGCL>R<ALAMKFKTTHAPPGDTLVHCGDVLTALYFL | 785 |
| KCNH8 | DELRSDITMHLNKEIL-QLSLFECASRGCL>R<SLSLHIKTSFCAPGEYLLRQGDALQAIYFV | 591 |
| CNGA1 | DKLRAEIAINVHLDTLKKVRIFADCEAGLL>V<ELVLKLQPQVYSPGDYICKKGDIGREMYII | 519 |
| CNGA2 | AKLRAEIAINVHLSTLKKVRIFHDCEAGLL>V<ELVLKLRPQVFSPGDYICRKGDIGKEMYII | 494 |
| CNGA3 | DKLKAEIAINVHLDTLKKVRIFQDCEAGLL>V<ELVLKLRPTVFSPGDYICKKGDIGKEMYII | 522 |
| CNGA4 | ERLRAEVAVSVHLSTLSRVQIFQNCEASLL>E<ELVLKLQPQTYSPGEYVCRKGDIGQEMYII | 388 |
| CNGB1 | DKMRLDLAIDVNYNIVSKVALFQGCDRQMI>F<DMLKRLRSVVYLPNDYVCKKGEIGREMYII | 1002 |
| CNGB3 | TTVQLALAIDVNFSIISKVDLFKGCDTQMI>Y<DMLLRLKSVLYLPGDFVCKKGEIGKEMYII | 564 |
| HCN1 | DPLREEIVNFNCRKLVATMPLFANADPNFV>T<AMLSKLRFEVFQPGDYIIREGAVGKKMYFI | 515 |
| HCN2 | GPLREEIVNFNCRKLVASMPLFANADPNFV>T<AMLTKLKFEVFQPGDYIIREGTIGKKMYFI | 584 |
| HCN3 | EPLREEIINFTCRGLVAHMPLFAHADPSFV>T<AVLTKLRFEVFQPGDLVVREGSVGRKMYFI | 468 |
| HCN4 | EPLREEIINFNCRKLVASMPLFANADPNFV>T<SMLTKLRFEVFQPGDYIIREGTIGKKMYFI | 635 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R752Q | c.2255G>A | Inherited Arrhythmia | LQTS | rs121912512 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. Pediatr Res. 2003 53(5):744-8. 12621127 | ||
| Unknown | Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet. 1998 102(4):435-9. 9600240 | ||||
| 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 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.R752W | c.2254C>T | Inherited Arrhythmia | LQTS | rs199472990 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome. Am J Physiol Heart Circ Physiol. 2000 279(4):H1748-56. 11009462 | |||
| Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.R752P | c.2255G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||