Paralogue Annotation for SCN5A residue 137

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 137
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 137

No paralogue variants have been mapped to residue 137 for SCN5A.

SCN5A	ATNALYVLSPFHPIRRAAVKILVHSLFNML>I<MCTILTNCVFMAQH------D-PPPWT--K	158
SCN1A	ATSALYILTPFNPLRKIAIKILVHSLFSML>I<MCTILTNCVFMTMS------N-PPDWT--K	155
SCN2A	ATPALYILTPFNPIRKLAIKILVHSLFNML>I<MCTILTNCVFMTMS------N-PPDWT--K	156
SCN3A	ATSALYILTPLNPVRKIAIKILVHSLFSML>I<MCTILTNCVFMTLS------N-PPDWT--K	155
SCN4A	ATPALYLLSPFSVVRRGAIKVLIHALFSMF>I<MITILTNCVFMTMS------D-PPPWS--K	158
SCN7A	AASILCTLSPFNCIRRTTIKVLVHPFFQLF>I<LISVLIDCVFMSLT------N-LPKWR--P	145
SCN8A	ATPALYILSPFNLIRRIAIKILIHSVFSMI>I<MCTILTNCVFMTFS------N-PPDWS--K	159
SCN9A	ATPALYMLSPFSPLRRISIKILVHSLFSML>I<MCTILTNCIFMTMN------N-PPDWT--K	153
SCN10A	ATRALWLFSPFNLIRRTAIKVSVHSWFSLF>I<TVTILVNCVCMTRT------D-LPE-----	154
SCN11A	AKHALFIFGPFNSIRSLAIRVSVHSLFSMF>I<IGTVIINCVFMATGPA-K--NSNSNNT--D	160
CACNA1A	VNRSLFLFSEDNVVRKYAKKITEWPPFEYM>I<LATIIANCIVLALEQHLPDDDKTPMSERLD	134
CACNA1B	VNRSLFVFSEDNVVRKYAKRITEWPPFEYM>I<LATIIANCIVLALEQHLPDGDKTPMSERLD	131
CACNA1C	PPRALLCLTLKNPIRRACISIVEWKPFEII>I<LLTIFANCVALAIYIPFPEDDSNATNSNLE	160
CACNA1D	PARALFCLSLNNPIRRACISIVEWKPFDIF>I<LLAIFANCVALAIYIPFPEDDSNSTNHNLE	162
CACNA1E	VNRSLFIFGEDNIVRKYAKKLIDWPPFEYM>I<LATIIANCIVLALEQHLPEDDKTPMSRRLE	125
CACNA1F	SPRALFCLTLANPLRRSCISIVEWKPFDIL>I<LLTIFANCVALGVYIPFPEDDSNTANHNLE	128
CACNA1G	APVVFFYLSQDSRPRSWCLRTVCNPWFERI>S<MLVILLNCVTLGMFRPCEDIACDSQRCRIL	117
CACNA1H	AATVFFCLGQTTRPRSWCLRLVCNPWFEHV>S<MLVIMLNCVTLGMFRPCEDVECGSERCNIL	136
CACNA1I	APIAFFCLRQTTSPRNWCIKMVCNPWFECV>S<MLVILLNCVTLGMYQPCDDMDCLSDRCKIL	115
CACNA1S	PPRALFCLTLENPLRKACISIVEWKPFETI>I<LLTIFANCVALAVYLPMPEDDNNSLNLGLE	87
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See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I137M	c.411C>G	Cardiomyopathy	ARVD/C		SIFT: Polyphen:
Reports		Cardiomyopathy	ARVD/C	SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia. Herz. 2014 39(2):271-5. doi: 10.1007/s00059-013-3998-5. 24317018
p.I137V	c.409A>G	Putative Benign			SIFT: Polyphen: