No paralogue variants have been mapped to residue 949 for SCN5A.
SCN5A | LLVMVIGNLVVLNLFLALLLSSFS-ADNLT>A<P-DEDREM-NNLQL-ALARIQRGLRFVK-- | 974 |
SCN1A | MMVMVIGNLVVLNLFLALLLSSFS-ADNLA>A<T-DDDNEM-NNLQI-AVDRMHKGVAYVK-- | 1027 |
SCN2A | MMVMVIGNLVVLNLFLALLLSSFS-SDNLA>A<T-DDDNEM-NNLQI-AVGRMQKGIDFVK-- | 1018 |
SCN3A | MLVMVIGNLVVLNLFLALLLSSFS-SDNLA>A<T-DDDNEM-NNLQI-AVGRMQKGIDYVK-- | 1019 |
SCN4A | LMVMVIGNLVVLNLFLALLLSSFS-ADSLA>A<S-DEDGEM-NNLQI-AIGRIKLGIGFAK-- | 837 |
SCN7A | LMVILIGNLLVLYLFLA-LVSSFS-SCKDV>T<A-EENNEA-KNLQL-AVARIKKGINYVL-- | 763 |
SCN8A | MMVMVIGNLVVLNLFLALLLSSFS-ADNLA>A<T-DDDGEM-NNLQI-SVIRIKKGVAWTK-- | 1012 |
SCN9A | MMVMVIGNLVVLNLFLALLLSSFS-SDNLT>A<I-EEDPDA-NNLQI-AVTRIKKGINYVK-- | 992 |
SCN10A | LTVMVLGNLVVLNLFIALLLNSFS-ADNLT>A<P-EDDGEV-NNLQV-ALARIQV---FGH-- | 922 |
SCN11A | ILITVIGKLVVLNLFIALLLNSFS-NEERN>G<NLEGEARK-TKVQL-ALDRFRRAFCFVR-- | 847 |
CACNA1A | IVLTLFGNYTLLNVFLAIAVDNLANAQELT>K<DEQEEEEA-ANQKL-ALQKAKEVAEVSPLS | 753 |
CACNA1B | IVLTLFGNYTLLNVFLAIAVDNLANAQELT>K<DEEEMEEA-ANQKL-ALQKAKEVAEVSPMS | 749 |
CACNA1C | IILFICGNYILLNVFLAIAVDNLADAESLT>S<AQKEEEEE-KERKK-LART---AS------ | 783 |
CACNA1D | IILFICGNYILLNVFLAIAVDNLADAESLN>T<AQKEEAEE-KERKK-IARK---ES------ | 802 |
CACNA1E | IVLTLFGNYTLLNVFLAIAVDNLANAQELT>K<DEQEEEEA-FNQKH-ALQKAKEVSPMSAPN | 742 |
CACNA1F | IILFICGNYILLNVFLAIAVDNLASGDA-G>T<AKDKGGEK-SNEKDLPQEN---EG------ | 788 |
CACNA1G | IALMTFGNYVLFNLLVAILVEGFQ-AEEIS>K<REDASGQL-SCIQL-PVDSQGGDANKS--- | 999 |
CACNA1H | VALMTFGNYVLFNLLVAILVEGFQ-AEGDA>N<RSDTDEDKTSVHFEEDFHKL---------- | 1045 |
CACNA1I | VALMTFGNYVLFNLLVAILVEGFQAEGDAN>-<RSYSDEDQSSSNIE-EFDKLQE-------- | 893 |
CACNA1S | IILFVCGNYILLNVFLAIAVDNLAEAESLT>S<AQKAKAEE-KKRRK-MSKGLPDKS------ | 694 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A949D | c.2846C>A | Putative Benign | SIFT: deleterious Polyphen: benign |