Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34978 | 105157;105158;105159 | chr2:178531683;178531682;178531681 | chr2:179396410;179396409;179396408 |
| N2AB | 33337 | 100234;100235;100236 | chr2:178531683;178531682;178531681 | chr2:179396410;179396409;179396408 |
| N2A | 32410 | 97453;97454;97455 | chr2:178531683;178531682;178531681 | chr2:179396410;179396409;179396408 |
| N2B | 25913 | 77962;77963;77964 | chr2:178531683;178531682;178531681 | chr2:179396410;179396409;179396408 |
| Novex-1 | 26038 | 78337;78338;78339 | chr2:178531683;178531682;178531681 | chr2:179396410;179396409;179396408 |
| Novex-2 | 26105 | 78538;78539;78540 | chr2:178531683;178531682;178531681 | chr2:179396410;179396409;179396408 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1343194230  |
0.153 | 0.999 | N | 0.583 | 0.405 | 0.143124449307 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| N/D | rs1343194230 |
0.153 | 0.999 | N | 0.583 | 0.405 | 0.143124449307 | gnomAD-4.0.0 | 3.18182E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85757E-06 | 0 | 3.02334E-05 |
| N/S | rs780028847 |
-0.418 | 0.999 | N | 0.547 | 0.422 | 0.177238962908 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.54E-05 | 0 |
| N/S | rs780028847 |
-0.418 | 0.999 | N | 0.547 | 0.422 | 0.177238962908 | 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 |
| N/S | rs780028847 |
-0.418 | 0.999 | N | 0.547 | 0.422 | 0.177238962908 | gnomAD-4.0.0 | 6.1961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08525E-06 | 4.39116E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.7866 | likely_pathogenic | 0.8607 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| N/C | 0.7052 | likely_pathogenic | 0.7988 | pathogenic | 0.258 | Stabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| N/D | 0.2666 | likely_benign | 0.3633 | ambiguous | 0.009 | Stabilizing | 0.999 | D | 0.583 | neutral | N | 0.494668075 | None | None | N |
| N/E | 0.8376 | likely_pathogenic | 0.8889 | pathogenic | 0.027 | Stabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| N/F | 0.9729 | likely_pathogenic | 0.9846 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| N/G | 0.5278 | ambiguous | 0.6251 | pathogenic | -0.998 | Destabilizing | 0.999 | D | 0.547 | neutral | None | None | None | None | N |
| N/H | 0.347 | ambiguous | 0.4465 | ambiguous | -0.909 | Destabilizing | 1.0 | D | 0.577 | neutral | N | 0.51593727 | None | None | N |
| N/I | 0.9681 | likely_pathogenic | 0.9824 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.516444249 | None | None | N |
| N/K | 0.8196 | likely_pathogenic | 0.8885 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.485209262 | None | None | N |
| N/L | 0.8633 | likely_pathogenic | 0.9084 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| N/M | 0.9249 | likely_pathogenic | 0.952 | pathogenic | 0.337 | Stabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| N/P | 0.995 | likely_pathogenic | 0.9968 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| N/Q | 0.7086 | likely_pathogenic | 0.7982 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.588 | neutral | None | None | None | None | N |
| N/R | 0.7475 | likely_pathogenic | 0.8294 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| N/S | 0.1888 | likely_benign | 0.2325 | benign | -0.492 | Destabilizing | 0.999 | D | 0.547 | neutral | N | 0.492210701 | None | None | N |
| N/T | 0.7935 | likely_pathogenic | 0.869 | pathogenic | -0.301 | Destabilizing | 0.999 | D | 0.638 | neutral | N | 0.504580965 | None | None | N |
| N/V | 0.9529 | likely_pathogenic | 0.9718 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| N/W | 0.9843 | likely_pathogenic | 0.9911 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| N/Y | 0.7392 | likely_pathogenic | 0.8158 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.622 | neutral | N | 0.505087944 | 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.