Paralogue Annotation for CACNA1C residue 1129

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1129
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 1129

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	G1433V	Brugada syndrome	Medium	9	20129283
SCN5A	G1433R	Early repolarization syndrome	Medium	9	23799537

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.

CACNA1C	DNVLAAMMALFTVSTFEGWPELLYRSIDSH>T<EDKGPIYNYRVEISIFFIIYIIIIAFFMMN	1159
CACNA1A	DNVLWALLTLFTVSTGEGWPQVLKHSVDAT>F<ENQGPSPGYRMEMSIFYVVYFVVFPFFFVN	1504
CACNA1B	DNVLWALLTLFTVSTGEGWPMVLKHSVDAT>Y<EEQGPSPGYRMELSIFYVVYFVVFPFFFVN	1410
CACNA1D	DNVLSAMMALFTVSTFEGWPALLYKAIDSN>G<ENIGPIYNHRVEISIFFIIYIIIVAFFMMN	1165
CACNA1E	DNIIWALLTLFTVSTGEGWPQVLQHSVDVT>E<EDRGPSRSNRMEMSIFYVVYFVVFPFFFVN	1416
CACNA1F	DNVLSAMMALFTVSTFEGWPALLYKAIDAY>A<EDHGPIYNYRVEISVFFIVYIIIIAFFMMN	1130
CACNA1G	DNLGQALMSLFVLASKDGWVDIMYDGLDAV>G<VDQQPIMNHNPWMLLYFISFLLIVAFFVLN	1530
CACNA1H	DNLGQALMSLFVLSSKDGWVNIMYDGLDAV>G<VDQQPVQNHNPWMLLYFISFLLIVSFFVLN	1548
CACNA1I	DNLGQALMSLFVLASKDGWVNIMYNGLDAV>A<VDQQPVTNHNPWMLLYFISFLLIVSFFVLN	1424
CACNA1S	DNVLSAMMSLFTVSTFEGWPQLLYKAIDSN>A<EDVGPIYNNRVEMAIFFIIYIILIAFFMMN	1058
SCN10A	DNVAMGYLALLQVATFKGWMDIMYAAVDSR>E<VNMQPKWEDNVYMYLYFVIFIIFGGFFTLN	1411
SCN11A	DNVGNAYLALLQVATFKGWMDIIYAAVDST>E<KEQQPEFESNSLGYIYFVVFIIFGSFFTLN	1301
SCN1A	DNVGFGYLSLLQVATFKGWMDIMYAAVDSR>N<VELQPKYEESLYMYLYFVIFIIFGSFFTLN	1476
SCN2A	DNVGLGYLSLLQVATFKGWMDIMYAAVDSR>N<VELQPKYEDNLYMYLYFVIFIIFGSFFTLN	1466
SCN3A	DNVGAGYLALLQVATFKGWMDIMYAAVDSR>D<VKLQPVYEENLYMYLYFVIFIIFGSFFTLN	1461
SCN4A	DNVGLGYLSLLQVATFKGWMDIMYAAVDSR>E<KEEQPQYEVNLYMYLYFVIFIIFGSFFTLN	1288
SCN5A	DNVGAGYLALLQVATFKGWMDIMYAAVDSR>G<YEEQPQWEYNLYMYIYFVIFIIFGSFFTLN	1463
SCN7A	DNVGNGFLSLLQVATFNGWITIMNSAIDSV>A<VNIQPHFEVNIYMYCYFINFIIFGVFLPLS	1186
SCN8A	DNVGAGYLALLQVATFKGWMDIMYAAVDSR>K<PDEQPKYEDNIYMYIYFVIFIIFGSFFTLN	1457
SCN9A	DNVGLGYLSLLQVATFKGWTIIMYAAVDSV>N<VDKQPKYEYSLYMYIYFVVFIIFGSFFTLN	1439
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1129M	c.3386C>T	Putative Benign		rs374549078	SIFT: tolerated Polyphen: benign