Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5973 | 18142;18143;18144 | chr2:178730616;178730615;178730614 | chr2:179595343;179595342;179595341 |
| N2AB | 5656 | 17191;17192;17193 | chr2:178730616;178730615;178730614 | chr2:179595343;179595342;179595341 |
| N2A | 4729 | 14410;14411;14412 | chr2:178730616;178730615;178730614 | chr2:179595343;179595342;179595341 |
| 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/I | rs765275978  |
0.126 | 0.012 | N | 0.245 | 0.197 | 0.302459207581 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/I | rs765275978 |
0.126 | 0.012 | N | 0.245 | 0.197 | 0.302459207581 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs765275978 |
0.126 | 0.012 | N | 0.245 | 0.197 | 0.302459207581 | gnomAD-4.0.0 | 6.57428E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 0 | 0 |
| T/P | None | None | 0.966 | N | 0.569 | 0.458 | 0.492475246742 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85899E-06 | 0 | 0 |
| T/S | None | None | 0.669 | N | 0.439 | 0.175 | 0.257786959452 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1271 | likely_benign | 0.1116 | benign | -1.1 | Destabilizing | 0.022 | N | 0.12 | neutral | D | 0.533270188 | None | None | N |
| T/C | 0.6302 | likely_pathogenic | 0.5759 | pathogenic | -0.654 | Destabilizing | 0.998 | D | 0.548 | neutral | None | None | None | None | N |
| T/D | 0.7662 | likely_pathogenic | 0.7603 | pathogenic | -1.64 | Destabilizing | 0.974 | D | 0.555 | neutral | None | None | None | None | N |
| T/E | 0.5652 | likely_pathogenic | 0.5879 | pathogenic | -1.435 | Destabilizing | 0.915 | D | 0.538 | neutral | None | None | None | None | N |
| T/F | 0.4564 | ambiguous | 0.4055 | ambiguous | -0.623 | Destabilizing | 0.949 | D | 0.631 | neutral | None | None | None | None | N |
| T/G | 0.597 | likely_pathogenic | 0.562 | ambiguous | -1.511 | Destabilizing | 0.728 | D | 0.592 | neutral | None | None | None | None | N |
| T/H | 0.3813 | ambiguous | 0.3811 | ambiguous | -1.637 | Destabilizing | 0.998 | D | 0.614 | neutral | None | None | None | None | N |
| T/I | 0.2028 | likely_benign | 0.1816 | benign | -0.014 | Destabilizing | 0.012 | N | 0.245 | neutral | N | 0.474299242 | None | None | N |
| T/K | 0.2701 | likely_benign | 0.3016 | benign | -0.564 | Destabilizing | 0.842 | D | 0.545 | neutral | None | None | None | None | N |
| T/L | 0.1537 | likely_benign | 0.137 | benign | -0.014 | Destabilizing | 0.525 | D | 0.479 | neutral | None | None | None | None | N |
| T/M | 0.1039 | likely_benign | 0.0901 | benign | -0.05 | Destabilizing | 0.949 | D | 0.571 | neutral | None | None | None | None | N |
| T/N | 0.2804 | likely_benign | 0.2631 | benign | -1.241 | Destabilizing | 0.989 | D | 0.495 | neutral | N | 0.518282093 | None | None | N |
| T/P | 0.8831 | likely_pathogenic | 0.8794 | pathogenic | -0.347 | Destabilizing | 0.966 | D | 0.569 | neutral | N | 0.50699027 | None | None | N |
| T/Q | 0.3595 | ambiguous | 0.3642 | ambiguous | -0.962 | Destabilizing | 0.991 | D | 0.579 | neutral | None | None | None | None | N |
| T/R | 0.2015 | likely_benign | 0.228 | benign | -0.835 | Destabilizing | 0.974 | D | 0.583 | neutral | None | None | None | None | N |
| T/S | 0.2315 | likely_benign | 0.2102 | benign | -1.4 | Destabilizing | 0.669 | D | 0.439 | neutral | N | 0.494327798 | None | None | N |
| T/V | 0.1537 | likely_benign | 0.138 | benign | -0.347 | Destabilizing | 0.029 | N | 0.13 | neutral | None | None | None | None | N |
| T/W | 0.8003 | likely_pathogenic | 0.7768 | pathogenic | -0.888 | Destabilizing | 0.998 | D | 0.644 | neutral | None | None | None | None | N |
| T/Y | 0.4658 | ambiguous | 0.4316 | ambiguous | -0.498 | Destabilizing | 0.991 | D | 0.645 | 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.