Paralogue Annotation for SCN5A residue 1923

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1923
Reference Amino Acid: H - Histidine
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1923

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	Q1937R	Generalised epilepsy with febrile seizures plus 2	Low	3	27236449

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 SCN5A.

SCN5A	HEEVS----AMVIQRAF-RRHLLQRS--LK>H<A-SFLFRQ---------QAGSGLSEEDAPE	1943
SCN1A	QEEVS----AVIIQRAY-RRHLLKRT--VK>Q<A-SFTYNK---------NKIKG--GANLLI	1955
SCN2A	QEEVS----AIIIQRAY-RRYLLKQK--VK>K<V-SSIYKK---------DKGKE--CDGTPI	1945
SCN3A	QEEVS----AAIIQRNF-RCYLLKQR--LK>N<I-SSNYNK---------EAIKG--RIDLPI	1940
SCN4A	HEEVC----AIKIQRAY-RRHLLQRS--MK>Q<A-SYMYRH---------SHDGS--GDDAPE	1767
SCN7A	QEAVS----ATIIQRAY-KNYRLRRN--DK>N<T-SDIHMI---------DGDR----DVHAT	1663
SCN8A	QEEVS----AVVLQRAY-RGHLARRG--FI>C<------------------------------	1917
SCN9A	QEDVS----ATVIQRAY-RRYRLRQN--VK>N<I-SSIYIK---------DGDRD---DDLLN	1917
SCN10A	QEDIS----ATVIQKAY-RSYVLHRS--MA>L<S-NTPCVP---------RAEEE---AASLP	1890
SCN11A	EEERG----AAIIQKAF-RKYMMKVT--KG>D<Q-G-D--Q----------------------	1759
CACNA1A	DLTVGKIYAAMMIMEYY-RQSKAKK--LQA>M<R-E---EQDRTPLMFQRMEPPS------PT	1997
CACNA1B	EMTVGKVYAALMIFDFY-KQNKTTRDQMQQ>A<PGG---LS----QMGPVSLFHP------LK	1895
CACNA1C	EVTVGKFYATFLIQEYF-RKFKKRKE--QG>L<V-GK--PS--------QRNALS-L-QAGLR	1656
CACNA1D	EVTVGKFYATFLIQDYF-RKFKKRKE--QG>L<V-GK-YPA--------KNTTIA-L-QAGLR	1665
CACNA1E	DLTVGKIYAAMMIMDYY-KQSKVKKQ--RQ>Q<L-E---EQ-KNAPMFQRMEPSS------LP	1908
CACNA1F	EVTVGKFYATFLIQDYF-RKFRRRKE--KG>L<L-GN-DAA--------PSTSSA-L-QAGLR	1622
CACNA1G	DP-----QIPLAEMEAL-SLTSEIVS--EP>S<C------------------SLA------LT	2001
CACNA1H	PR-----PLQEVEMETYGAGTPLGSV--AS>V<H-SP-PAE-SCASLQIPLAVSS------PA	1989
CACNA1I	KCHHDKQEVQLAETEAF-SLNSDRSS--SI>L<L-GD-DLS-LEDPTACPPGRKD------SK	1888
CACNA1S	EVTVGKFYATFLIQEHF-RKFMKRQE--EY>Y<--GY--RP--------KKDIVQ-I-QAGLR	1560
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1923Y	c.5767C>T	Putative Benign			SIFT: Polyphen: