Paralogue Annotation for SCN5A residue 205

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 205
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 205

No paralogue variants have been mapped to residue 205 for SCN5A.



SCN5AKILARGFCLHAFTFLRDPWNWLDFSVIIMA>Y<VSENIKLG-----------------NLSAL218
SCN1AKIIARGFCLEDFTFLRDPWNWLDFTVITFA>Y<VTEFVDLG-----------------NVSAL215
SCN2AKILARGFCLEDFTFLRDPWNWLDFTVITFA>Y<VTEFVDLG-----------------NVSAL216
SCN3AKILARGFCLEDFTFLRDPWNWLDFSVIVMA>Y<VTEFVDLG-----------------NVSAL215
SCN4AKILARGFCVDDFTFLRDPWNWLDFSVIMMA>Y<LTEFVDLG-----------------NISAL218
SCN7AKLFARGVWAGSFSFLGDPWNWLDFSVTVFE>V<IIRYSPLD-----------------FIPTL205
SCN8AKIIARGFCIDGFTFLRDPWNWLDFSVIMMA>Y<ITEFVNLG-----------------NVSAL219
SCN9AKILARGFCVGEFTFLRDPWNWLDFVVIVFA>Y<LTEFVNLG-----------------NVSAL213
SCN10AKILARGFCLNEFTYLRDPWNWLDFSVITLA>Y<VGTAIDLR-----------------GISGL214
SCN11AKILARGFILDEFSFLRDPWNWLDSIVIGIA>I<VSYIPGIT----------------IKLLPL221
CACNA1AKIIALGFAFHKGSYLRNGWNVMDFVVVLTG>I<LATVGTEF-----------------DLRTL194
CACNA1BKIIALGFVFHKGSYLRNGWNVMDFVVVLTG>I<LATAGTDF-----------------DLRTL191
CACNA1CKVIAYGLLFHPNAYLRNGWNLLDFIIVVVG>L<FSAILEQATKA-DGANALGGKGAGFDVKAL236
CACNA1DKIIAYGLLLHPNAYVRNGWNLLDFVIVIVG>L<FSVILEQLTKETEGGNHSSGKSGGFDVKAL239
CACNA1EKIVALGFIFHKGSYLRNGWNVMDFIVVLSG>I<LATAGTHFN-------------THVDLRTL189
CACNA1FKIVAYGLVLHPSAYIRNGWNLLDFIIVVVG>L<FSVLLEQGPGRPGDAPHTGGKPGGFDVKAL205
CACNA1GKMVALGI-FGKKCYLGDTWNRLDFFIVIAG>M<LEYSLDLQ---------------NVSFSAV179
CACNA1HKMVALGL-FGQKCYLGDTWNRLDFFIVVAG>M<MEYSLDGH---------------NVSLSAI198
CACNA1IKMVALGI-FGKKCYLGDTWNRLDFFIVMAG>M<VEYSLDLQ---------------NINLSAI177
CACNA1SKIIAYGFLFHQDAYLRSGWNVLDFTIVFLG>V<FTVILEQVNVIQSHTAPMSSKGAGLDVKAL164
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y205Hc.613T>C Putative BenignSIFT: deleterious
Polyphen: probably damaging