No paralogue variants have been mapped to residue 1469 for SCN5A.
SCN5A | QWEYNLYMYIYFVIFIIFGSFFTLNLFIGV>I<IDNFNQQKKKLGGQDIFMTEEQKKYY---- | 1495 |
SCN1A | KYEESLYMYLYFVIFIIFGSFFTLNLFIGV>I<IDNFNQQKKKFGGQDIFMTEEQKKYY---- | 1508 |
SCN2A | KYEDNLYMYLYFVIFIIFGSFFTLNLFIGV>I<IDNFNQQKKKFGGQDIFMTEEQKKYY---- | 1498 |
SCN3A | VYEENLYMYLYFVIFIIFGSFFTLNLFIGV>I<IDNFNQQKKKFGGQDIFMTEEQKKYY---- | 1493 |
SCN4A | QYEVNLYMYLYFVIFIIFGSFFTLNLFIGV>I<IDNFNQQKKKLGGKDIFMTEEQKKYY---- | 1320 |
SCN7A | HFEVNIYMYCYFINFIIFGVFLPLSMLITV>I<IDNFNKHKIKLGGSNIFITVKQRKQY---- | 1218 |
SCN8A | KYEDNIYMYIYFVIFIIFGSFFTLNLFIGV>I<IDNFNQQKKKFGGQDIFMTEEQKKYY---- | 1489 |
SCN9A | KYEYSLYMYIYFVVFIIFGSFFTLNLFIGV>I<IDNFNQQKKKLGGQDIFMTEEQKKYY---- | 1471 |
SCN10A | KWEDNVYMYLYFVIFIIFGGFFTLNLFVGV>I<IDNFNQQKKKLGGQDIFMTEEQKKYY---- | 1443 |
SCN11A | EFESNSLGYIYFVVFIIFGSFFTLNLFIGV>I<IDNFNQQQKKLGGQDIFMTEEQKKYY---- | 1333 |
CACNA1A | SPGYRMEMSIFYVVYFVVFPFFFVNIFVAL>I<IITFQEQGDKM----MEEYSLEKNER---- | 1532 |
CACNA1B | SPGYRMELSIFYVVYFVVFPFFFVNIFVAL>I<IITFQEQGDKV----MSECSLEKNER---- | 1438 |
CACNA1C | IYNYRVEISIFFIIYIIIIAFFMMNIFVGF>V<IVTFQEQGEQE----YKNCELDKNQR---- | 1187 |
CACNA1D | IYNHRVEISIFFIIYIIIVAFFMMNIFVGF>V<IVTFQEQGEKE----YKNCELDKNQR---- | 1193 |
CACNA1E | SRSNRMEMSIFYVVYFVVFPFFFVNIFVAL>I<IITFQEQGDKM----MEECSLEKNER---- | 1444 |
CACNA1F | IYNYRVEISVFFIVYIIIIAFFMMNIFVGF>V<IITFRAQGEQE----YQNCELDKNQR---- | 1158 |
CACNA1G | IMNHNPWMLLYFISFLLIVAFFVLNMFVGV>V<VENFHKCRQHQEEEEARRREEKRLRRLEKK | 1566 |
CACNA1H | VQNHNPWMLLYFISFLLIVSFFVLNMFVGV>V<VENFHKCRQHQEAEEARRREEK-------- | 1576 |
CACNA1I | VTNHNPWMLLYFISFLLIVSFFVLNMFVGV>V<VENFHKCRQHQEAEEARRREEK-------- | 1452 |
CACNA1S | IYNNRVEMAIFFIIYIILIAFFMMNIFVGF>V<IVTFQEQGETE----YKNCELDKNQR---- | 1086 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ile1469Phe | c.4405A>T | Unknown | SIFT: Polyphen: |