Paralogue Annotation for SCN5A residue 139

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 139
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 139

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	L100P	Congenital stationary night blindness	Medium	9	25307992
CACNA1F	L100R	Congenital stationary night blindness	Medium	9	25307992

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	NALYVLSPFHPIRRAAVKILVHSLFNMLIM>C<TILTNCVFMAQH------D-PPPWT--KYV	160
SCN1A	SALYILTPFNPLRKIAIKILVHSLFSMLIM>C<TILTNCVFMTMS------N-PPDWT--KNV	157
SCN2A	PALYILTPFNPIRKLAIKILVHSLFNMLIM>C<TILTNCVFMTMS------N-PPDWT--KNV	158
SCN3A	SALYILTPLNPVRKIAIKILVHSLFSMLIM>C<TILTNCVFMTLS------N-PPDWT--KNV	157
SCN4A	PALYLLSPFSVVRRGAIKVLIHALFSMFIM>I<TILTNCVFMTMS------D-PPPWS--KNV	160
SCN7A	SILCTLSPFNCIRRTTIKVLVHPFFQLFIL>I<SVLIDCVFMSLT------N-LPKWR--PVL	147
SCN8A	PALYILSPFNLIRRIAIKILIHSVFSMIIM>C<TILTNCVFMTFS------N-PPDWS--KNV	161
SCN9A	PALYMLSPFSPLRRISIKILVHSLFSMLIM>C<TILTNCIFMTMN------N-PPDWT--KNV	155
SCN10A	RALWLFSPFNLIRRTAIKVSVHSWFSLFIT>V<TILVNCVCMTRT------D-LPE-----KI	156
SCN11A	HALFIFGPFNSIRSLAIRVSVHSLFSMFII>G<TVIINCVFMATGPA-K--NSNSNNT--DIA	162
CACNA1A	RSLFLFSEDNVVRKYAKKITEWPPFEYMIL>A<TIIANCIVLALEQHLPDDDKTPMSERLDDT	136
CACNA1B	RSLFVFSEDNVVRKYAKRITEWPPFEYMIL>A<TIIANCIVLALEQHLPDGDKTPMSERLDDT	133
CACNA1C	RALLCLTLKNPIRRACISIVEWKPFEIIIL>L<TIFANCVALAIYIPFPEDDSNATNSNLERV	162
CACNA1D	RALFCLSLNNPIRRACISIVEWKPFDIFIL>L<AIFANCVALAIYIPFPEDDSNSTNHNLEKV	164
CACNA1E	RSLFIFGEDNIVRKYAKKLIDWPPFEYMIL>A<TIIANCIVLALEQHLPEDDKTPMSRRLEKT	127
CACNA1F	RALFCLTLANPLRRSCISIVEWKPFDILIL>L<TIFANCVALGVYIPFPEDDSNTANHNLEQV	130
CACNA1G	VVFFYLSQDSRPRSWCLRTVCNPWFERISM>L<VILLNCVTLGMFRPCEDIACDSQRCRILQA	119
CACNA1H	TVFFCLGQTTRPRSWCLRLVCNPWFEHVSM>L<VIMLNCVTLGMFRPCEDVECGSERCNILEA	138
CACNA1I	IAFFCLRQTTSPRNWCIKMVCNPWFECVSM>L<VILLNCVTLGMYQPCDDMDCLSDRCKILQV	117
CACNA1S	RALFCLTLENPLRKACISIVEWKPFETIIL>L<TIFANCVALAVYLPMPEDDNNSLNLGLEKL	89
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 139 for SCN5A.