Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2887 | 8884;8885;8886 | chr2:178769922;178769921;178769920 | chr2:179634649;179634648;179634647 |
| N2AB | 2887 | 8884;8885;8886 | chr2:178769922;178769921;178769920 | chr2:179634649;179634648;179634647 |
| N2A | 2887 | 8884;8885;8886 | chr2:178769922;178769921;178769920 | chr2:179634649;179634648;179634647 |
| N2B | 2841 | 8746;8747;8748 | chr2:178769922;178769921;178769920 | chr2:179634649;179634648;179634647 |
| Novex-1 | 2841 | 8746;8747;8748 | chr2:178769922;178769921;178769920 | chr2:179634649;179634648;179634647 |
| Novex-2 | 2841 | 8746;8747;8748 | chr2:178769922;178769921;178769920 | chr2:179634649;179634648;179634647 |
| Novex-3 | 2887 | 8884;8885;8886 | chr2:178769922;178769921;178769920 | chr2:179634649;179634648;179634647 |
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 | None | None | 0.998 | N | 0.637 | 0.481 | 0.590228304998 | gnomAD-4.0.0 | 1.59058E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85659E-06 | 0 | 0 |
| T/N | rs752697997  |
-0.258 | 0.998 | N | 0.533 | 0.349 | 0.535202146198 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/N | rs752697997 |
-0.258 | 0.998 | N | 0.533 | 0.349 | 0.535202146198 | gnomAD-4.0.0 | 9.5435E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71318E-06 | 4.29812E-05 | 3.02151E-05 |
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 | 0.0821 | likely_benign | 0.0856 | benign | -0.506 | Destabilizing | 0.91 | D | 0.491 | neutral | N | 0.500199466 | None | None | N |
| T/C | 0.4619 | ambiguous | 0.5869 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| T/D | 0.3918 | ambiguous | 0.4595 | ambiguous | 0.047 | Stabilizing | 0.985 | D | 0.574 | neutral | None | None | None | None | N |
| T/E | 0.27 | likely_benign | 0.3157 | benign | 0.01 | Stabilizing | 0.985 | D | 0.568 | neutral | None | None | None | None | N |
| T/F | 0.3518 | ambiguous | 0.4221 | ambiguous | -0.706 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/G | 0.2598 | likely_benign | 0.2994 | benign | -0.714 | Destabilizing | 0.985 | D | 0.617 | neutral | None | None | None | None | N |
| T/H | 0.2368 | likely_benign | 0.2917 | benign | -0.97 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/I | 0.2305 | likely_benign | 0.2712 | benign | -0.062 | Destabilizing | 0.998 | D | 0.637 | neutral | N | 0.498535846 | None | None | N |
| T/K | 0.1413 | likely_benign | 0.1679 | benign | -0.611 | Destabilizing | 0.985 | D | 0.566 | neutral | None | None | None | None | N |
| T/L | 0.1263 | likely_benign | 0.1463 | benign | -0.062 | Destabilizing | 0.985 | D | 0.541 | neutral | None | None | None | None | N |
| T/M | 0.0948 | likely_benign | 0.1053 | benign | 0.057 | Stabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| T/N | 0.1114 | likely_benign | 0.126 | benign | -0.366 | Destabilizing | 0.998 | D | 0.533 | neutral | N | 0.498141489 | None | None | N |
| T/P | 0.0825 | likely_benign | 0.0893 | benign | -0.178 | Destabilizing | 0.031 | N | 0.258 | neutral | N | 0.349209393 | None | None | N |
| T/Q | 0.1709 | likely_benign | 0.2058 | benign | -0.538 | Destabilizing | 0.999 | D | 0.65 | neutral | None | None | None | None | N |
| T/R | 0.1327 | likely_benign | 0.1699 | benign | -0.353 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| T/S | 0.1214 | likely_benign | 0.1322 | benign | -0.602 | Destabilizing | 0.98 | D | 0.524 | neutral | N | 0.486905269 | None | None | N |
| T/V | 0.1785 | likely_benign | 0.1949 | benign | -0.178 | Destabilizing | 0.985 | D | 0.465 | neutral | None | None | None | None | N |
| T/W | 0.6857 | likely_pathogenic | 0.7854 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| T/Y | 0.3362 | likely_benign | 0.4352 | ambiguous | -0.455 | Destabilizing | 0.999 | D | 0.707 | prob.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.