No paralogue variants have been mapped to residue 952 for SCN5A.
SCN5A | VIGNLVVLNLFLALLLSSFS-ADNLTAP-D>E<DREM-NNLQL-ALARIQRGLRFVK------ | 974 |
SCN1A | VIGNLVVLNLFLALLLSSFS-ADNLAAT-D>D<DNEM-NNLQI-AVDRMHKGVAYVK------ | 1027 |
SCN2A | VIGNLVVLNLFLALLLSSFS-SDNLAAT-D>D<DNEM-NNLQI-AVGRMQKGIDFVK------ | 1018 |
SCN3A | VIGNLVVLNLFLALLLSSFS-SDNLAAT-D>D<DNEM-NNLQI-AVGRMQKGIDYVK------ | 1019 |
SCN4A | VIGNLVVLNLFLALLLSSFS-ADSLAAS-D>E<DGEM-NNLQI-AIGRIKLGIGFAK------ | 837 |
SCN7A | LIGNLLVLYLFLA-LVSSFS-SCKDVTA-E>E<NNEA-KNLQL-AVARIKKGINYVL------ | 763 |
SCN8A | VIGNLVVLNLFLALLLSSFS-ADNLAAT-D>D<DGEM-NNLQI-SVIRIKKGVAWTK------ | 1012 |
SCN9A | VIGNLVVLNLFLALLLSSFS-SDNLTAI-E>E<DPDA-NNLQI-AVTRIKKGINYVK------ | 992 |
SCN10A | VLGNLVVLNLFIALLLNSFS-ADNLTAP-E>D<DGEV-NNLQV-ALARIQV---FGH------ | 922 |
SCN11A | VIGKLVVLNLFIALLLNSFS-NEERNGNLE>G<EARK-TKVQL-ALDRFRRAFCFVR------ | 847 |
CACNA1A | LFGNYTLLNVFLAIAVDNLANAQELTKDEQ>E<EEEA-ANQKL-ALQKAKEVAEVSPLSAANM | 757 |
CACNA1B | LFGNYTLLNVFLAIAVDNLANAQELTKDEE>E<MEEA-ANQKL-ALQKAKEVAEVSPMSAANI | 753 |
CACNA1C | ICGNYILLNVFLAIAVDNLADAESLTSAQK>E<EEEE-KERKK-LART---AS---------- | 783 |
CACNA1D | ICGNYILLNVFLAIAVDNLADAESLNTAQK>E<EAEE-KERKK-IARK---ES---------- | 802 |
CACNA1E | LFGNYTLLNVFLAIAVDNLANAQELTKDEQ>E<EEEA-FNQKH-ALQKAKEVSPMSAPNMPSI | 746 |
CACNA1F | ICGNYILLNVFLAIAVDNLASGDA-GTAKD>K<GGEK-SNEKDLPQEN---EG---------- | 788 |
CACNA1G | TFGNYVLFNLLVAILVEGFQ-AEEISKRED>A<SGQL-SCIQL-PVDSQGGDANKS------- | 999 |
CACNA1H | TFGNYVLFNLLVAILVEGFQ-AEGDANRSD>T<DEDKTSVHFEEDFHKL-------------- | 1045 |
CACNA1I | TFGNYVLFNLLVAILVEGFQAEGDAN-RSY>S<DEDQSSSNIE-EFDKLQE------------ | 893 |
CACNA1S | VCGNYILLNVFLAIAVDNLAEAESLTSAQK>A<KAEE-KKRRK-MSKGLPDKS---------- | 694 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E952K | c.2854G>A | Putative Benign | SIFT: Polyphen: |