Paralogue Annotation for SCN5A residue 872

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 872
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 872

No paralogue variants have been mapped to residue 872 for SCN5A.



SCN5AAIIVFIFAVVGMQLFGKNYSEL-RDS---->D<-SG---LLPRWHMMDFFHAFLIIFRILCGE898
SCN1AAIIVFIFAVVGMQLFGKSYKDC-VCK---->I<-AS-DCQLPRWHMNDFFHSFLIVFRVLCGE951
SCN2AAIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-SN-DCELPRWHMHDFFHSFLIVFRVLCGE942
SCN3AAIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-ND-DCTLPRWHMNDFFHSFLIVFRVLCGE943
SCN4AAIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-AL-DCNLPRWHMHDFFHSFLIVFRILCGE761
SCN7AFTFIFFSAAFGMKLFGKNYEEF-VCH---->I<-DK-DCQLPRWHMHDFFHSFLNVFRILCGE688
SCN8AAIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-NQ-DCELPRWHMHDFFHSFLIVFRVLCGE936
SCN9AAIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-ND-DCTLPRWHMNDFFHSFLIVFRVLCGE916
SCN10AAIIVFVFALVGKQLLGENYRNN-RKN---->I<-SAPHEDWPRWHMHDFFHSFLIVFRILCGE849
SCN11AVIVIFIFSVVGMQLFGRSFNSQ-KSPKLCN>P<TGPTVSCLRHWHMGDFWHSFLVVFRILCGE768
CACNA1AFLFIVVFALLGMQLFGGQFNFD-E------>-<-----G-TPPTNFDTFPAAIMTVFQILTGE668
CACNA1BFLFIVVFALLGMQLFGGQFNFQ-D------>-<-----E-TPTTNFDTFPAAILTVFQILTGE664
CACNA1CFLFIIIFSLLGMQLFGGKFNFD-E------>-<-----MQTRRSTFDNFPQSLLTVFQILTGE706
CACNA1DFLFIIIFSLLGMQLFGGKFNFD-E------>-<-----TQTKRSTFDNFPQALLTVFQILTGE725
CACNA1EFLFIVVFALLGMQLFGGRFNFN-D------>-<-----G-TPSANFDTFPAAIMTVFQILTGE657
CACNA1FFLFIIIFSLLGMQLFGGKFNFD-Q------>-<-----THTKRSTFDTFPQALLTVFQILTGE711
CACNA1GMLFIFIFSILGMHLFGCKFASER------->-<-DG-DTLPDRKNFDSLLWAIVTVFQILTQE923
CACNA1HMLFIFIFSILGMHLFGCKFSLKTD------>-<-TG-DTVPDRKNFDSLLWAIVTVFQILTQE974
CACNA1IMLFIFIFSILGMHIFGCKFSLRTD------>-<-TG-DTVPDRKNFDSLLWAIVTVFQILTQE821
CACNA1SFLFIVIFALLGMQLFGGRYDFE-D------>-<-----TEVRRSNFDNFPQALISVFQVLTGE614
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D872Nc.2614G>A CardiomyopathySIFT:
Polyphen:
ReportsCardiomyopathyHCM Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. 2016 577(2):227-35. doi: 10.1016/j.gene.2015.11.048. 26656175