Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18670 | 56233;56234;56235 | chr2:178600896;178600895;178600894 | chr2:179465623;179465622;179465621 |
| N2AB | 17029 | 51310;51311;51312 | chr2:178600896;178600895;178600894 | chr2:179465623;179465622;179465621 |
| N2A | 16102 | 48529;48530;48531 | chr2:178600896;178600895;178600894 | chr2:179465623;179465622;179465621 |
| N2B | 9605 | 29038;29039;29040 | chr2:178600896;178600895;178600894 | chr2:179465623;179465622;179465621 |
| Novex-1 | 9730 | 29413;29414;29415 | chr2:178600896;178600895;178600894 | chr2:179465623;179465622;179465621 |
| Novex-2 | 9797 | 29614;29615;29616 | chr2:178600896;178600895;178600894 | chr2:179465623;179465622;179465621 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs777752824  |
-1.706 | 1.0 | N | 0.765 | 0.434 | 0.408307896497 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/S | rs777752824 |
-1.706 | 1.0 | N | 0.765 | 0.434 | 0.408307896497 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs777752824 |
-1.706 | 1.0 | N | 0.765 | 0.434 | 0.408307896497 | gnomAD-4.0.0 | 5.07557E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02527E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2367 | likely_benign | 0.2529 | benign | -1.501 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.474758918 | None | None | N |
| P/C | 0.9 | likely_pathogenic | 0.9193 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/D | 0.9448 | likely_pathogenic | 0.9681 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/E | 0.8959 | likely_pathogenic | 0.9354 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/F | 0.8805 | likely_pathogenic | 0.9032 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/G | 0.766 | likely_pathogenic | 0.7561 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/H | 0.7834 | likely_pathogenic | 0.8472 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.504272385 | None | None | N |
| P/I | 0.864 | likely_pathogenic | 0.8945 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/K | 0.9571 | likely_pathogenic | 0.9727 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/L | 0.6863 | likely_pathogenic | 0.7382 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.50848544 | None | None | N |
| P/M | 0.8565 | likely_pathogenic | 0.8842 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/N | 0.9269 | likely_pathogenic | 0.9461 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Q | 0.8254 | likely_pathogenic | 0.8775 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/R | 0.9105 | likely_pathogenic | 0.9335 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.87 | deleterious | N | 0.491902122 | None | None | N |
| P/S | 0.5631 | ambiguous | 0.6366 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.491395143 | None | None | N |
| P/T | 0.6116 | likely_pathogenic | 0.6933 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.514868222 | None | None | N |
| P/V | 0.7377 | likely_pathogenic | 0.7801 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/W | 0.9173 | likely_pathogenic | 0.9544 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/Y | 0.8381 | likely_pathogenic | 0.8851 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.871 | deleterious | 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.