Paralogue Annotation for SCN5A residue 227

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 227
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 227

No paralogue variants have been mapped to residue 227 for SCN5A.



SCN5A-----------------NLSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLADVMVLT257
SCN1A-----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT254
SCN2A-----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT255
SCN3A-----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT254
SCN4A-----------------NISALRTFRVLRA>L<KTITVIPGLKTIVGALIQSVKKLSDVMILT257
SCN7A-----------------FIPTLQTARTLRI>L<KIIPLNQGLKSLVGVLIHCLKQLIGVIILT244
SCN8A-----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT258
SCN9A-----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT252
SCN10A-----------------GISGLRTFRVLRA>L<KTVSVIPGLKVIVGALIHSVKKLADVTILT253
SCN11A----------------IKLLPLRTFRVFRA>L<KAISVVSRLKVIVGALLRSVKKLVNVIILT260
CACNA1A-----------------DLRTLRAVRVLRP>L<KLVSGIPSLQVVLKSIMKAMIPLLQIGLLL233
CACNA1B-----------------DLRTLRAVRVLRP>L<KLVSGIPSLQVVLKSIMKAMVPLLQIGLLL230
CACNA1CTKA-DGANALGGKGAGFDVKALRAFRVLRP>L<RLVSGVPSLQVVLNSIIKAMVPLLHIALLV275
CACNA1DTKETEGGNHSSGKSGGFDVKALRAFRVLRP>L<RLVSGVPSLQVVLNSIIKAMVPLLHIALLV278
CACNA1EN-------------THVDLRTLRAVRVLRP>L<KLVSGIPSLQIVLKSIMKAMVPLLQIGLLL228
CACNA1FPGRPGDAPHTGGKPGGFDVKALRAFRVLRP>L<RLVSGVPSLHIVLNSIMKALVPLLHIALLV244
CACNA1G---------------NVSFSAVRTVRVLRP>L<RAINRVPSMRILVTLLLDTLPMLGNVLLLC218
CACNA1H---------------NVSLSAIRTVRVLRP>L<RAINRVPSMRILVTLLLDTLPMLGNVLLLC237
CACNA1I---------------NINLSAIRTVRVLRP>L<KAINRVPSMRILVNLLLDTLPMLGNVLLLC216
CACNA1SNVIQSHTAPMSSKGAGLDVKALRAFRVLRP>L<RLVSGVPSLQVVLNSIFKAMLPLFHIALLV203
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L227Pc.680T>C Putative BenignSIFT:
Polyphen: