Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30145 | 90658;90659;90660 | chr2:178552467;178552466;178552465 | chr2:179417194;179417193;179417192 |
| N2AB | 28504 | 85735;85736;85737 | chr2:178552467;178552466;178552465 | chr2:179417194;179417193;179417192 |
| N2A | 27577 | 82954;82955;82956 | chr2:178552467;178552466;178552465 | chr2:179417194;179417193;179417192 |
| N2B | 21080 | 63463;63464;63465 | chr2:178552467;178552466;178552465 | chr2:179417194;179417193;179417192 |
| Novex-1 | 21205 | 63838;63839;63840 | chr2:178552467;178552466;178552465 | chr2:179417194;179417193;179417192 |
| Novex-2 | 21272 | 64039;64040;64041 | chr2:178552467;178552466;178552465 | chr2:179417194;179417193;179417192 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs751359750  |
-0.1 | 0.999 | N | 0.672 | 0.422 | 0.609245221294 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/N | rs751359750 |
-0.1 | 0.999 | N | 0.672 | 0.422 | 0.609245221294 | gnomAD-4.0.0 | 1.37205E-06 | None | None | None | None | I | None | 0 | 4.48149E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs751359750 |
-0.455 | 0.989 | N | 0.526 | 0.35 | 0.501060295512 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 2.68E-05 | 0 |
| I/T | rs751359750 |
-0.455 | 0.989 | N | 0.526 | 0.35 | 0.501060295512 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/T | rs751359750 |
-0.455 | 0.989 | N | 0.526 | 0.35 | 0.501060295512 | gnomAD-4.0.0 | 1.3666E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69966E-05 | 2.19935E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2347 | likely_benign | 0.2014 | benign | -0.734 | Destabilizing | 0.992 | D | 0.507 | neutral | None | None | None | None | I |
| I/C | 0.7748 | likely_pathogenic | 0.7054 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.52 | neutral | None | None | None | None | I |
| I/D | 0.8267 | likely_pathogenic | 0.7113 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| I/E | 0.5717 | likely_pathogenic | 0.4658 | ambiguous | -0.341 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| I/F | 0.3396 | likely_benign | 0.2878 | benign | -0.712 | Destabilizing | 0.998 | D | 0.484 | neutral | N | 0.471465928 | None | None | I |
| I/G | 0.7728 | likely_pathogenic | 0.673 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
| I/H | 0.7582 | likely_pathogenic | 0.6681 | pathogenic | -0.204 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| I/K | 0.5833 | likely_pathogenic | 0.4747 | ambiguous | -0.422 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | I |
| I/L | 0.1398 | likely_benign | 0.1251 | benign | -0.377 | Destabilizing | 0.889 | D | 0.392 | neutral | N | 0.400411119 | None | None | I |
| I/M | 0.104 | likely_benign | 0.0978 | benign | -0.39 | Destabilizing | 0.998 | D | 0.481 | neutral | N | 0.466790827 | None | None | I |
| I/N | 0.4242 | ambiguous | 0.2987 | benign | -0.178 | Destabilizing | 0.999 | D | 0.672 | neutral | N | 0.471639286 | None | None | I |
| I/P | 0.8311 | likely_pathogenic | 0.7522 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| I/Q | 0.5664 | likely_pathogenic | 0.4724 | ambiguous | -0.406 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| I/R | 0.4991 | ambiguous | 0.4007 | ambiguous | 0.146 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| I/S | 0.344 | ambiguous | 0.2652 | benign | -0.638 | Destabilizing | 0.998 | D | 0.573 | neutral | N | 0.433504973 | None | None | I |
| I/T | 0.145 | likely_benign | 0.1276 | benign | -0.615 | Destabilizing | 0.989 | D | 0.526 | neutral | N | 0.441316379 | None | None | I |
| I/V | 0.0956 | likely_benign | 0.0858 | benign | -0.463 | Destabilizing | 0.333 | N | 0.255 | neutral | N | 0.363642243 | None | None | I |
| I/W | 0.893 | likely_pathogenic | 0.866 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| I/Y | 0.7153 | likely_pathogenic | 0.6362 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.511 | neutral | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.