Paralogue Annotation for SCN5A residue 288

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 288
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 288

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN3A	N302S	Epilepsy	Medium	3	24990319, 24990319

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	HKCVR--------------------NFTAL>N<---G-TN-------------GS--------	293
SCN1A	NKCIQ-WP-PTNASLEEH-SI-EKNITVNY>N<---G-TL-------------IN--------	306
SCN2A	NKCLQ-WP-PDNSSFEIN-ITSFFNNSLDG>N<---G-TT-------------FN--------	308
SCN3A	NKCLQ-WP-PSDSAFETN-TTSYFNGTMDS>N<---G-TF-------------VN--------	307
SCN4A	QKCVR-WP-PPFN--DTN-TTWYSNDTWYG>N<---D-TWYGNEMWYGNDSWYANDTWNSHAS	329
SCN7A	HKCFR-WP-QENE----------------->N<---E-TLH-------------N--------	281
SCN8A	NKCVV-WP-------------------INF>N<---E-SY-------------LE--------	294
SCN9A	HKCFR-NS-------------------LEN>N<---E-TL-------------ES--------	288
SCN10A	NKCVK-N-------------------DMAV>N<---E-TTN----------------------	288
SCN11A	LKCIS-R-------------------DCK->N<---I-SN-----------------------	293
CACNA1A	TTCFE-E-GTD------------DI----->Q<---G--------------------------	266
CACNA1B	KACFP-N-STD------------A------>E<---P--------------------------	262
CACNA1C	KTCYNQEGIAD-------------V----P>A<---E--------------------------	310
CACNA1D	KTCFF-A-DSD-------------I----V>A<---E--------------------------	311
CACNA1E	RACFM-N-NSG------------IL----E>G<---F--------------------------	262
CACNA1F	KTCYF-L-GSD-------------M----E>A<---E--------------------------	277
CACNA1G	NRCFL-P-ENFSLPLSVD-LE-RYYQT-EN>E<---DESPFICSQPRENG-------MRSCRS	284
CACNA1H	NRCFL-D-SAFVRNNNLTFLR-PYYQT-EE>G<---EENPFICSSRRDNG-------MQKCSH	304
CACNA1I	NRCFL-E-ENFTIQGDVA-LP-PYYQP-EE>D<---DEMPFICSLSGDNG-------IMGCHE	282
CACNA1S	KTCYF-I-GTD-------------I----V>A<TVEN--------------------------	239
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N288S	c.863A>G	Putative Benign			SIFT: Polyphen: