Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18998 | 57217;57218;57219 | chr2:178598625;178598624;178598623 | chr2:179463352;179463351;179463350 |
| N2AB | 17357 | 52294;52295;52296 | chr2:178598625;178598624;178598623 | chr2:179463352;179463351;179463350 |
| N2A | 16430 | 49513;49514;49515 | chr2:178598625;178598624;178598623 | chr2:179463352;179463351;179463350 |
| N2B | 9933 | 30022;30023;30024 | chr2:178598625;178598624;178598623 | chr2:179463352;179463351;179463350 |
| Novex-1 | 10058 | 30397;30398;30399 | chr2:178598625;178598624;178598623 | chr2:179463352;179463351;179463350 |
| Novex-2 | 10125 | 30598;30599;30600 | chr2:178598625;178598624;178598623 | chr2:179463352;179463351;179463350 |
| 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/A | rs773331027  |
-0.619 | 0.973 | N | 0.58 | 0.203 | 0.268660756437 | gnomAD-2.1.1 | 4.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.09E-06 | 0 |
| T/A | rs773331027 |
-0.619 | 0.973 | N | 0.58 | 0.203 | 0.268660756437 | gnomAD-4.0.0 | 3.22797E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.75152E-06 | 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 | 0.1178 | likely_benign | 0.1174 | benign | -0.706 | Destabilizing | 0.973 | D | 0.58 | neutral | N | 0.502378773 | None | None | N |
| T/C | 0.4592 | ambiguous | 0.4575 | ambiguous | -0.421 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| T/D | 0.7118 | likely_pathogenic | 0.6675 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| T/E | 0.541 | ambiguous | 0.4858 | ambiguous | -0.162 | Destabilizing | 1.0 | D | 0.551 | neutral | None | None | None | None | N |
| T/F | 0.4181 | ambiguous | 0.3761 | ambiguous | -0.875 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/G | 0.3543 | ambiguous | 0.3463 | ambiguous | -0.925 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| T/H | 0.4812 | ambiguous | 0.4387 | ambiguous | -1.184 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/I | 0.179 | likely_benign | 0.1434 | benign | -0.226 | Destabilizing | 0.733 | D | 0.248 | neutral | N | 0.481291424 | None | None | N |
| T/K | 0.3067 | likely_benign | 0.2572 | benign | -0.704 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.449891082 | None | None | N |
| T/L | 0.1342 | likely_benign | 0.1145 | benign | -0.226 | Destabilizing | 0.96 | D | 0.519 | neutral | None | None | None | None | N |
| T/M | 0.1038 | likely_benign | 0.0959 | benign | 0.071 | Stabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| T/N | 0.2392 | likely_benign | 0.2191 | benign | -0.53 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| T/P | 0.6417 | likely_pathogenic | 0.6011 | pathogenic | -0.355 | Destabilizing | 0.999 | D | 0.633 | neutral | N | 0.478133642 | None | None | N |
| T/Q | 0.3671 | ambiguous | 0.3339 | benign | -0.756 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| T/R | 0.2974 | likely_benign | 0.2469 | benign | -0.388 | Destabilizing | 0.999 | D | 0.631 | neutral | N | 0.51980974 | None | None | N |
| T/S | 0.1592 | likely_benign | 0.1641 | benign | -0.803 | Destabilizing | 0.994 | D | 0.518 | neutral | N | 0.465684467 | None | None | N |
| T/V | 0.1398 | likely_benign | 0.1176 | benign | -0.355 | Destabilizing | 0.611 | D | 0.299 | neutral | None | None | None | None | N |
| T/W | 0.7788 | likely_pathogenic | 0.749 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/Y | 0.5365 | ambiguous | 0.4878 | ambiguous | -0.581 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | 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.