Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6650 | 20173;20174;20175 | chr2:178727630;178727629;178727628 | chr2:179592357;179592356;179592355 |
| N2AB | 6333 | 19222;19223;19224 | chr2:178727630;178727629;178727628 | chr2:179592357;179592356;179592355 |
| N2A | 5406 | 16441;16442;16443 | chr2:178727630;178727629;178727628 | chr2:179592357;179592356;179592355 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs751222632  |
-1.14 | 0.999 | N | 0.562 | 0.593 | 0.294206760003 | gnomAD-2.1.1 | 1.11E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.61E-05 | 1.468E-04 |
| N/S | rs751222632 |
-1.14 | 0.999 | N | 0.562 | 0.593 | 0.294206760003 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78011E-04 |
| N/S | rs751222632 |
-1.14 | 0.999 | N | 0.562 | 0.593 | 0.294206760003 | gnomAD-4.0.0 | 6.52387E-06 | None | None | None | None | N | None | 1.7118E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.2926E-06 | 0 | 2.89184E-05 |
| N/T | rs751222632 |
-0.778 | 1.0 | D | 0.708 | 0.7 | 0.558889990735 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 0 | 3.13E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/T | rs751222632 |
-0.778 | 1.0 | D | 0.708 | 0.7 | 0.558889990735 | gnomAD-4.0.0 | 1.62767E-06 | None | None | None | None | N | None | 0 | 2.41709E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9793 | likely_pathogenic | 0.961 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| N/C | 0.9446 | likely_pathogenic | 0.9142 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| N/D | 0.923 | likely_pathogenic | 0.9019 | pathogenic | -1.368 | Destabilizing | 0.999 | D | 0.598 | neutral | D | 0.547486015 | None | None | N |
| N/E | 0.9958 | likely_pathogenic | 0.9952 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| N/F | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| N/G | 0.9456 | likely_pathogenic | 0.9171 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.543 | neutral | None | None | None | None | N |
| N/H | 0.9536 | likely_pathogenic | 0.9387 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.537397158 | None | None | N |
| N/I | 0.991 | likely_pathogenic | 0.9862 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.537650647 | None | None | N |
| N/K | 0.9959 | likely_pathogenic | 0.9952 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.548246484 | None | None | N |
| N/L | 0.9768 | likely_pathogenic | 0.9687 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| N/M | 0.9874 | likely_pathogenic | 0.9816 | pathogenic | 0.396 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| N/P | 0.9935 | likely_pathogenic | 0.9934 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| N/Q | 0.995 | likely_pathogenic | 0.994 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| N/R | 0.9933 | likely_pathogenic | 0.9931 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/S | 0.4457 | ambiguous | 0.3325 | benign | -1.09 | Destabilizing | 0.999 | D | 0.562 | neutral | N | 0.512238557 | None | None | N |
| N/T | 0.8778 | likely_pathogenic | 0.8066 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.547739505 | None | None | N |
| N/V | 0.9836 | likely_pathogenic | 0.9724 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| N/W | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9883 | likely_pathogenic | 0.9845 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.548753463 | 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.