No paralogue variants have been mapped to residue 1915 for SCN5A.
SCN5A | EPITTTLRRKHEEVS----AMVIQRAF-RR>H<LLQRS--LKHA-SFLFRQ---------QAG | 1933 |
SCN1A | QPITTTLKRKQEEVS----AVIIQRAY-RR>H<LLKRT--VKQA-SFTYNK---------NKI | 1947 |
SCN2A | EPITTTLKRKQEEVS----AIIIQRAY-RR>Y<LLKQK--VKKV-SSIYKK---------DKG | 1937 |
SCN3A | EPITTTLKRKQEEVS----AAIIQRNF-RC>Y<LLKQR--LKNI-SSNYNK---------EAI | 1932 |
SCN4A | EPITTTLKRKHEEVC----AIKIQRAY-RR>H<LLQRS--MKQA-SYMYRH---------SHD | 1759 |
SCN7A | EPITTTLKRKQEAVS----ATIIQRAY-KN>Y<RLRRN--DKNT-SDIHMI---------DGD | 1657 |
SCN8A | EPITTTLRRKQEEVS----AVVLQRAY-RG>H<LARRG--FIC-------------------- | 1917 |
SCN9A | EPITTTLKRKQEDVS----ATVIQRAY-RR>Y<RLRQN--VKNI-SSIYIK---------DGD | 1910 |
SCN10A | EPIATTLRWKQEDIS----ATVIQKAY-RS>Y<VLHRS--MALS-NTPCVP---------RAE | 1883 |
SCN11A | EPIVTTTKRKEEERG----AAIIQKAF-RK>Y<MMKVT--KGDQ-G-D--Q------------ | 1759 |
CACNA1A | DLLVTPHKSTDLTVGKIYAAMMIMEYY-RQ>S<KAKK--LQAMR-E---EQDRTPLMFQRMEP | 1993 |
CACNA1B | DLLVPPHKPDEMTVGKVYAALMIFDFY-KQ>N<KTTRDQMQQAPGG---LS----QMGPVSLF | 1891 |
CACNA1C | DQVVPPAGDDEVTVGKFYATFLIQEYF-RK>F<KKRKE--QGLV-GK--PS--------QRNA | 1648 |
CACNA1D | DQVVPPAGDDEVTVGKFYATFLIQDYF-RK>F<KKRKE--QGLV-GK-YPA--------KNTT | 1657 |
CACNA1E | DLLVPMPKASDLTVGKIYAAMMIMDYY-KQ>S<KVKKQ--RQQL-E---EQ-KNAPMFQRMEP | 1904 |
CACNA1F | DEVIPPPDEEEVTVGKFYATFLIQDYF-RK>F<RRRKE--KGLL-GN-DAA--------PSTS | 1614 |
CACNA1G | FPSAPSLGGSDP-----QIPLAEMEAL-SL>T<SEIVS--EPSC------------------S | 1997 |
CACNA1H | RPVVPASAPHPR-----PLQEVEMETYGAG>T<PLGSV--ASVH-SP-PAE-SCASLQIPLAV | 1985 |
CACNA1I | HHYSSPAGCKKCHHDKQEVQLAETEAF-SL>N<SDRSS--SILL-GD-DLS-LEDPTACPPGR | 1884 |
CACNA1S | DQVIPPIGDDEVTVGKFYATFLIQEHF-RK>F<MKRQE--EYY--GY--RP--------KKDI | 1552 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1915Y | c.5743C>T | Putative Benign | SIFT: Polyphen: | ||
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||
p.H1915N | c.5743C>A | Putative Benign | SIFT: Polyphen: |