Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5786 | 17581;17582;17583 | chr2:178731410;178731409;178731408 | chr2:179596137;179596136;179596135 |
| N2AB | 5469 | 16630;16631;16632 | chr2:178731410;178731409;178731408 | chr2:179596137;179596136;179596135 |
| N2A | 4542 | 13849;13850;13851 | chr2:178731410;178731409;178731408 | chr2:179596137;179596136;179596135 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs745386654  |
-1.173 | 0.351 | N | 0.507 | 0.257 | 0.274366138417 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/G | rs745386654 |
-1.173 | 0.351 | N | 0.507 | 0.257 | 0.274366138417 | gnomAD-4.0.0 | 6.84203E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| S/I | rs1553924253 |
None | 0.007 | N | 0.533 | 0.41 | 0.445614145163 | gnomAD-4.0.0 | 3.42102E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.55858E-05 | None | 0 | 0 | 1.79893E-06 | 0 | 0 |
| S/R | rs745386654 |
0.097 | 0.655 | N | 0.686 | 0.408 | 0.322510055762 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs745386654 |
0.097 | 0.655 | N | 0.686 | 0.408 | 0.322510055762 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs745386654 |
0.097 | 0.655 | N | 0.686 | 0.408 | 0.322510055762 | gnomAD-4.0.0 | 2.47875E-06 | None | None | None | None | N | None | 5.33917E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0987 | likely_benign | 0.1002 | benign | -0.608 | Destabilizing | 0.061 | N | 0.379 | neutral | None | None | None | None | N |
| S/C | 0.1398 | likely_benign | 0.1345 | benign | -0.316 | Destabilizing | 0.921 | D | 0.63 | neutral | N | 0.498795042 | None | None | N |
| S/D | 0.6683 | likely_pathogenic | 0.6454 | pathogenic | -1.35 | Destabilizing | 0.418 | N | 0.603 | neutral | None | None | None | None | N |
| S/E | 0.7066 | likely_pathogenic | 0.6798 | pathogenic | -1.137 | Destabilizing | 0.418 | N | 0.581 | neutral | None | None | None | None | N |
| S/F | 0.2166 | likely_benign | 0.2333 | benign | -0.393 | Destabilizing | 0.716 | D | 0.673 | neutral | None | None | None | None | N |
| S/G | 0.1561 | likely_benign | 0.1683 | benign | -1.023 | Destabilizing | 0.351 | N | 0.507 | neutral | N | 0.498274967 | None | None | N |
| S/H | 0.4226 | ambiguous | 0.4063 | ambiguous | -1.398 | Destabilizing | 0.983 | D | 0.628 | neutral | None | None | None | None | N |
| S/I | 0.1933 | likely_benign | 0.1908 | benign | 0.453 | Stabilizing | 0.007 | N | 0.533 | neutral | N | 0.464778469 | None | None | N |
| S/K | 0.7805 | likely_pathogenic | 0.756 | pathogenic | -0.083 | Destabilizing | 0.418 | N | 0.582 | neutral | None | None | None | None | N |
| S/L | 0.1166 | likely_benign | 0.1229 | benign | 0.453 | Stabilizing | 0.001 | N | 0.503 | neutral | None | None | None | None | N |
| S/M | 0.2097 | likely_benign | 0.2164 | benign | 0.292 | Stabilizing | 0.716 | D | 0.65 | neutral | None | None | None | None | N |
| S/N | 0.2162 | likely_benign | 0.2194 | benign | -0.843 | Destabilizing | 0.351 | N | 0.583 | neutral | N | 0.49792825 | None | None | N |
| S/P | 0.9678 | likely_pathogenic | 0.9704 | pathogenic | 0.134 | Stabilizing | 0.836 | D | 0.688 | prob.neutral | None | None | None | None | N |
| S/Q | 0.6053 | likely_pathogenic | 0.5968 | pathogenic | -0.519 | Destabilizing | 0.836 | D | 0.613 | neutral | None | None | None | None | N |
| S/R | 0.6699 | likely_pathogenic | 0.568 | pathogenic | -0.57 | Destabilizing | 0.655 | D | 0.686 | prob.neutral | N | 0.46150609 | None | None | N |
| S/T | 0.0787 | likely_benign | 0.0765 | benign | -0.452 | Destabilizing | 0.001 | N | 0.165 | neutral | N | 0.390795211 | None | None | N |
| S/V | 0.186 | likely_benign | 0.1897 | benign | 0.134 | Stabilizing | 0.004 | N | 0.503 | neutral | None | None | None | None | N |
| S/W | 0.4044 | ambiguous | 0.4134 | ambiguous | -0.752 | Destabilizing | 0.983 | D | 0.676 | prob.neutral | None | None | None | None | N |
| S/Y | 0.2022 | likely_benign | 0.2091 | benign | -0.246 | Destabilizing | 0.836 | D | 0.646 | 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.