No paralogue variants have been mapped to residue 872 for SCN5A.
SCN5A | AIIVFIFAVVGMQLFGKNYSEL-RDS---->D<-SG---LLPRWHMMDFFHAFLIIFRILCGE | 898 |
SCN1A | AIIVFIFAVVGMQLFGKSYKDC-VCK---->I<-AS-DCQLPRWHMNDFFHSFLIVFRVLCGE | 951 |
SCN2A | AIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-SN-DCELPRWHMHDFFHSFLIVFRVLCGE | 942 |
SCN3A | AIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-ND-DCTLPRWHMNDFFHSFLIVFRVLCGE | 943 |
SCN4A | AIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-AL-DCNLPRWHMHDFFHSFLIVFRILCGE | 761 |
SCN7A | FTFIFFSAAFGMKLFGKNYEEF-VCH---->I<-DK-DCQLPRWHMHDFFHSFLNVFRILCGE | 688 |
SCN8A | AIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-NQ-DCELPRWHMHDFFHSFLIVFRVLCGE | 936 |
SCN9A | AIIVFIFAVVGMQLFGKSYKEC-VCK---->I<-ND-DCTLPRWHMNDFFHSFLIVFRVLCGE | 916 |
SCN10A | AIIVFVFALVGKQLLGENYRNN-RKN---->I<-SAPHEDWPRWHMHDFFHSFLIVFRILCGE | 849 |
SCN11A | VIVIFIFSVVGMQLFGRSFNSQ-KSPKLCN>P<TGPTVSCLRHWHMGDFWHSFLVVFRILCGE | 768 |
CACNA1A | FLFIVVFALLGMQLFGGQFNFD-E------>-<-----G-TPPTNFDTFPAAIMTVFQILTGE | 668 |
CACNA1B | FLFIVVFALLGMQLFGGQFNFQ-D------>-<-----E-TPTTNFDTFPAAILTVFQILTGE | 664 |
CACNA1C | FLFIIIFSLLGMQLFGGKFNFD-E------>-<-----MQTRRSTFDNFPQSLLTVFQILTGE | 706 |
CACNA1D | FLFIIIFSLLGMQLFGGKFNFD-E------>-<-----TQTKRSTFDNFPQALLTVFQILTGE | 725 |
CACNA1E | FLFIVVFALLGMQLFGGRFNFN-D------>-<-----G-TPSANFDTFPAAIMTVFQILTGE | 657 |
CACNA1F | FLFIIIFSLLGMQLFGGKFNFD-Q------>-<-----THTKRSTFDTFPQALLTVFQILTGE | 711 |
CACNA1G | MLFIFIFSILGMHLFGCKFASER------->-<-DG-DTLPDRKNFDSLLWAIVTVFQILTQE | 923 |
CACNA1H | MLFIFIFSILGMHLFGCKFSLKTD------>-<-TG-DTVPDRKNFDSLLWAIVTVFQILTQE | 974 |
CACNA1I | MLFIFIFSILGMHIFGCKFSLRTD------>-<-TG-DTVPDRKNFDSLLWAIVTVFQILTQE | 821 |
CACNA1S | FLFIVIFALLGMQLFGGRYDFE-D------>-<-----TEVRRSNFDNFPQALISVFQVLTGE | 614 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D872N | c.2614G>A | Cardiomyopathy | SIFT: Polyphen: | ||
Reports | Cardiomyopathy | HCM | 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 |