Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13820 | 41683;41684;41685 | chr2:178636113;178636112;178636111 | chr2:179500840;179500839;179500838 |
| N2AB | 12179 | 36760;36761;36762 | chr2:178636113;178636112;178636111 | chr2:179500840;179500839;179500838 |
| N2A | 11252 | 33979;33980;33981 | chr2:178636113;178636112;178636111 | chr2:179500840;179500839;179500838 |
| N2B | 4755 | 14488;14489;14490 | chr2:178636113;178636112;178636111 | chr2:179500840;179500839;179500838 |
| Novex-1 | 4880 | 14863;14864;14865 | chr2:178636113;178636112;178636111 | chr2:179500840;179500839;179500838 |
| Novex-2 | 4947 | 15064;15065;15066 | chr2:178636113;178636112;178636111 | chr2:179500840;179500839;179500838 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs373963620  |
-0.489 | 0.183 | N | 0.243 | 0.073 | None | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| V/M | rs376127282 |
-0.51 | 0.655 | N | 0.361 | 0.072 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/M | rs376127282 |
-0.51 | 0.655 | N | 0.361 | 0.072 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs376127282 |
-0.51 | 0.655 | N | 0.361 | 0.072 | None | gnomAD-4.0.0 | 6.41055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19733E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2095 | likely_benign | 0.2037 | benign | -0.506 | Destabilizing | 0.183 | N | 0.243 | neutral | N | 0.34864299 | None | None | N |
| V/C | 0.8588 | likely_pathogenic | 0.8519 | pathogenic | -0.821 | Destabilizing | 0.983 | D | 0.358 | neutral | None | None | None | None | N |
| V/D | 0.4767 | ambiguous | 0.4547 | ambiguous | -0.618 | Destabilizing | 0.418 | N | 0.601 | neutral | None | None | None | None | N |
| V/E | 0.3106 | likely_benign | 0.2934 | benign | -0.705 | Destabilizing | 0.213 | N | 0.375 | neutral | N | 0.345853248 | None | None | N |
| V/F | 0.2623 | likely_benign | 0.2488 | benign | -0.694 | Destabilizing | 0.557 | D | 0.476 | neutral | None | None | None | None | N |
| V/G | 0.3276 | likely_benign | 0.3004 | benign | -0.621 | Destabilizing | 0.351 | N | 0.528 | neutral | N | 0.344301201 | None | None | N |
| V/H | 0.6935 | likely_pathogenic | 0.6708 | pathogenic | -0.08 | Destabilizing | 0.94 | D | 0.492 | neutral | None | None | None | None | N |
| V/I | 0.0907 | likely_benign | 0.0945 | benign | -0.333 | Destabilizing | 0.001 | N | 0.091 | neutral | None | None | None | None | N |
| V/K | 0.3582 | ambiguous | 0.3254 | benign | -0.606 | Destabilizing | None | N | 0.208 | neutral | None | None | None | None | N |
| V/L | 0.2482 | likely_benign | 0.2542 | benign | -0.333 | Destabilizing | 0.001 | N | 0.105 | neutral | N | 0.345990265 | None | None | N |
| V/M | 0.1855 | likely_benign | 0.1808 | benign | -0.646 | Destabilizing | 0.655 | D | 0.361 | neutral | N | 0.344708597 | None | None | N |
| V/N | 0.3792 | ambiguous | 0.3648 | ambiguous | -0.474 | Destabilizing | 0.716 | D | 0.615 | neutral | None | None | None | None | N |
| V/P | 0.5527 | ambiguous | 0.5503 | ambiguous | -0.361 | Destabilizing | 0.836 | D | 0.541 | neutral | None | None | None | None | N |
| V/Q | 0.3705 | ambiguous | 0.3478 | ambiguous | -0.668 | Destabilizing | 0.716 | D | 0.54 | neutral | None | None | None | None | N |
| V/R | 0.3832 | ambiguous | 0.3338 | benign | -0.102 | Destabilizing | 0.264 | N | 0.529 | neutral | None | None | None | None | N |
| V/S | 0.2774 | likely_benign | 0.2679 | benign | -0.762 | Destabilizing | 0.418 | N | 0.374 | neutral | None | None | None | None | N |
| V/T | 0.1719 | likely_benign | 0.1757 | benign | -0.755 | Destabilizing | 0.418 | N | 0.208 | neutral | None | None | None | None | N |
| V/W | 0.8956 | likely_pathogenic | 0.8833 | pathogenic | -0.778 | Destabilizing | 0.983 | D | 0.513 | neutral | None | None | None | None | N |
| V/Y | 0.7319 | likely_pathogenic | 0.7 | pathogenic | -0.507 | Destabilizing | 0.836 | D | 0.451 | neutral | None | None | None | None | N |
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.