Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5239 | 15940;15941;15942 | chr2:178733674;178733673;178733672 | chr2:179598401;179598400;179598399 |
| N2AB | 4922 | 14989;14990;14991 | chr2:178733674;178733673;178733672 | chr2:179598401;179598400;179598399 |
| N2A | 3995 | 12208;12209;12210 | chr2:178733674;178733673;178733672 | chr2:179598401;179598400;179598399 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | rs756844952  |
-0.278 | 0.995 | D | 0.625 | 0.308 | 0.441324992753 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/K | rs756844952 |
-0.278 | 0.995 | D | 0.625 | 0.308 | 0.441324992753 | gnomAD-4.0.0 | 6.84295E-07 | None | None | None | None | N | None | 0 | 2.23654E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs756844952 |
-0.178 | 0.998 | D | 0.646 | 0.357 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| T/M | rs756844952 |
-0.178 | 0.998 | D | 0.646 | 0.357 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 4.83E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/M | rs756844952 |
-0.178 | 0.998 | D | 0.646 | 0.357 | None | gnomAD-4.0.0 | 2.16923E-05 | None | None | None | None | N | None | 2.67065E-05 | 1.66739E-05 | None | 0 | 2.22886E-05 | None | 0 | 0 | 2.37357E-05 | 2.19616E-05 | 1.60133E-05 |
| T/R | None | None | 0.998 | D | 0.637 | 0.335 | 0.500176316166 | gnomAD-4.0.0 | 6.84295E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99583E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1002 | likely_benign | 0.1024 | benign | -1.232 | Destabilizing | 0.828 | D | 0.573 | neutral | D | 0.632566356 | None | None | N |
| T/C | 0.4408 | ambiguous | 0.427 | ambiguous | -0.778 | Destabilizing | 0.339 | N | 0.555 | neutral | None | None | None | None | N |
| T/D | 0.6458 | likely_pathogenic | 0.6365 | pathogenic | -0.72 | Destabilizing | 0.991 | D | 0.637 | neutral | None | None | None | None | N |
| T/E | 0.4226 | ambiguous | 0.4275 | ambiguous | -0.596 | Destabilizing | 0.991 | D | 0.628 | neutral | None | None | None | None | N |
| T/F | 0.2401 | likely_benign | 0.2248 | benign | -1.04 | Destabilizing | 0.991 | D | 0.657 | neutral | None | None | None | None | N |
| T/G | 0.386 | ambiguous | 0.3879 | ambiguous | -1.594 | Destabilizing | 0.969 | D | 0.614 | neutral | None | None | None | None | N |
| T/H | 0.2641 | likely_benign | 0.2592 | benign | -1.694 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| T/I | 0.1445 | likely_benign | 0.1391 | benign | -0.308 | Destabilizing | 0.939 | D | 0.595 | neutral | None | None | None | None | N |
| T/K | 0.2659 | likely_benign | 0.2668 | benign | -0.504 | Destabilizing | 0.995 | D | 0.625 | neutral | D | 0.522977177 | None | None | N |
| T/L | 0.1285 | likely_benign | 0.116 | benign | -0.308 | Destabilizing | 0.088 | N | 0.507 | neutral | None | None | None | None | N |
| T/M | 0.1074 | likely_benign | 0.104 | benign | -0.113 | Destabilizing | 0.998 | D | 0.646 | neutral | D | 0.598429173 | None | None | N |
| T/N | 0.1974 | likely_benign | 0.1849 | benign | -0.853 | Destabilizing | 0.991 | D | 0.619 | neutral | None | None | None | None | N |
| T/P | 0.7473 | likely_pathogenic | 0.7177 | pathogenic | -0.584 | Destabilizing | 0.994 | D | 0.633 | neutral | D | 0.736785201 | None | None | N |
| T/Q | 0.2637 | likely_benign | 0.2563 | benign | -0.839 | Destabilizing | 0.995 | D | 0.648 | neutral | None | None | None | None | N |
| T/R | 0.1916 | likely_benign | 0.1819 | benign | -0.521 | Destabilizing | 0.998 | D | 0.637 | neutral | D | 0.545087972 | None | None | N |
| T/S | 0.1192 | likely_benign | 0.1233 | benign | -1.219 | Destabilizing | 0.476 | N | 0.526 | neutral | N | 0.443344731 | None | None | N |
| T/V | 0.1301 | likely_benign | 0.1297 | benign | -0.584 | Destabilizing | 0.293 | N | 0.511 | neutral | None | None | None | None | N |
| T/W | 0.6367 | likely_pathogenic | 0.6148 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2735 | likely_benign | 0.2435 | benign | -0.697 | Destabilizing | 0.999 | D | 0.667 | 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.