Paralogue Annotation for SCN5A residue 1915

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1915
Reference Amino Acid: H - Histidine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1915

No paralogue variants have been mapped to residue 1915 for SCN5A.



SCN5AEPITTTLRRKHEEVS----AMVIQRAF-RR>H<LLQRS--LKHA-SFLFRQ---------QAG1933
SCN1AQPITTTLKRKQEEVS----AVIIQRAY-RR>H<LLKRT--VKQA-SFTYNK---------NKI1947
SCN2AEPITTTLKRKQEEVS----AIIIQRAY-RR>Y<LLKQK--VKKV-SSIYKK---------DKG1937
SCN3AEPITTTLKRKQEEVS----AAIIQRNF-RC>Y<LLKQR--LKNI-SSNYNK---------EAI1932
SCN4AEPITTTLKRKHEEVC----AIKIQRAY-RR>H<LLQRS--MKQA-SYMYRH---------SHD1759
SCN7AEPITTTLKRKQEAVS----ATIIQRAY-KN>Y<RLRRN--DKNT-SDIHMI---------DGD1657
SCN8AEPITTTLRRKQEEVS----AVVLQRAY-RG>H<LARRG--FIC--------------------1917
SCN9AEPITTTLKRKQEDVS----ATVIQRAY-RR>Y<RLRQN--VKNI-SSIYIK---------DGD1910
SCN10AEPIATTLRWKQEDIS----ATVIQKAY-RS>Y<VLHRS--MALS-NTPCVP---------RAE1883
SCN11AEPIVTTTKRKEEERG----AAIIQKAF-RK>Y<MMKVT--KGDQ-G-D--Q------------1759
CACNA1ADLLVTPHKSTDLTVGKIYAAMMIMEYY-RQ>S<KAKK--LQAMR-E---EQDRTPLMFQRMEP1993
CACNA1BDLLVPPHKPDEMTVGKVYAALMIFDFY-KQ>N<KTTRDQMQQAPGG---LS----QMGPVSLF1891
CACNA1CDQVVPPAGDDEVTVGKFYATFLIQEYF-RK>F<KKRKE--QGLV-GK--PS--------QRNA1648
CACNA1DDQVVPPAGDDEVTVGKFYATFLIQDYF-RK>F<KKRKE--QGLV-GK-YPA--------KNTT1657
CACNA1EDLLVPMPKASDLTVGKIYAAMMIMDYY-KQ>S<KVKKQ--RQQL-E---EQ-KNAPMFQRMEP1904
CACNA1FDEVIPPPDEEEVTVGKFYATFLIQDYF-RK>F<RRRKE--KGLL-GN-DAA--------PSTS1614
CACNA1GFPSAPSLGGSDP-----QIPLAEMEAL-SL>T<SEIVS--EPSC------------------S1997
CACNA1HRPVVPASAPHPR-----PLQEVEMETYGAG>T<PLGSV--ASVH-SP-PAE-SCASLQIPLAV1985
CACNA1IHHYSSPAGCKKCHHDKQEVQLAETEAF-SL>N<SDRSS--SILL-GD-DLS-LEDPTACPPGR1884
CACNA1SDQVIPPIGDDEVTVGKFYATFLIQEHF-RK>F<MKRQE--EYY--GY--RP--------KKDI1552
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H1915Yc.5743C>T Putative BenignSIFT:
Polyphen:
ReportsUnknown 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.H1915Nc.5743C>A Putative BenignSIFT:
Polyphen: