No paralogue variants have been mapped to residue 267 for SCN5A.
SCN5A | KTIVGALIQSVKKLADVMVLTVFCLSVFAL>I<GLQLFMGNLRHKCVR--------------- | 282 |
SCN1A | KTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLRNKCIQ-WP-PTNASLEEH-S | 291 |
SCN2A | KTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLRNKCLQ-WP-PDNSSFEIN-I | 292 |
SCN3A | KTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLRNKCLQ-WP-PSDSAFETN-T | 291 |
SCN4A | KTIVGALIQSVKKLSDVMILTVFCLSVFAL>V<GLQLFMGNLRQKCVR-WP-PPFN--DTN-T | 292 |
SCN7A | KSLVGVLIHCLKQLIGVIILTLFFLSIFSL>I<GMGLFMGNLKHKCFR-WP-QENE------- | 275 |
SCN8A | KTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLRNKCVV-WP------------ | 285 |
SCN9A | KTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLKHKCFR-NS------------ | 279 |
SCN10A | KVIVGALIHSVKKLADVTILTIFCLSVFAL>V<GLQLFKGNLKNKCVK-N------------- | 279 |
SCN11A | KVIVGALLRSVKKLVNVIILTFFCLSIFAL>V<GQQLFMGSLNLKCIS-R------------- | 286 |
CACNA1A | QVVLKSIMKAMIPLLQIGLLLFFAILIFAI>I<GLEFYMGKFHTTCFE-E-GTD--------- | 262 |
CACNA1B | QVVLKSIMKAMVPLLQIGLLLFFAILMFAI>I<GLEFYMGKFHKACFP-N-STD--------- | 259 |
CACNA1C | QVVLNSIIKAMVPLLHIALLVLFVIIIYAI>I<GLELFMGKMHKTCYNQEGIAD--------- | 306 |
CACNA1D | QVVLNSIIKAMVPLLHIALLVLFVIIIYAI>I<GLELFIGKMHKTCFF-A-DSD--------- | 307 |
CACNA1E | QIVLKSIMKAMVPLLQIGLLLFFAILMFAI>I<GLEFYSGKLHRACFM-N-NSG--------- | 257 |
CACNA1F | HIVLNSIMKALVPLLHIALLVLFVIIIYAI>I<GLELFLGRMHKTCYF-L-GSD--------- | 273 |
CACNA1G | RILVTLLLDTLPMLGNVLLLCFFVFFIFGI>V<GVQLWAGLLRNRCFL-P-ENFSLPLSVD-L | 255 |
CACNA1H | RILVTLLLDTLPMLGNVLLLCFFVFFIFGI>V<GVQLWAGLLRNRCFL-D-SAFVRNNNLTFL | 275 |
CACNA1I | RILVNLLLDTLPMLGNVLLLCFFVFFIFGI>I<GVQLWAGLLRNRCFL-E-ENFTIQGDVA-L | 253 |
CACNA1S | QVVLNSIFKAMLPLFHIALLVLFMVIIYAI>I<GLELFKGKMHKTCYF-I-GTD--------- | 232 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I267L | c.799A>C | Inherited Arrhythmia | LQTS | SIFT: deleterious Polyphen: benign | |
Reports | Inherited Arrhythmia | LQTS | Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. 22677073 | ||
p.I267V | c.799A>G | Putative Benign | rs372145184 | SIFT: tolerated Polyphen: possibly damaging |