Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33117 | 99574;99575;99576 | chr2:178537858;178537857;178537856 | chr2:179402585;179402584;179402583 |
| N2AB | 31476 | 94651;94652;94653 | chr2:178537858;178537857;178537856 | chr2:179402585;179402584;179402583 |
| N2A | 30549 | 91870;91871;91872 | chr2:178537858;178537857;178537856 | chr2:179402585;179402584;179402583 |
| N2B | 24052 | 72379;72380;72381 | chr2:178537858;178537857;178537856 | chr2:179402585;179402584;179402583 |
| Novex-1 | 24177 | 72754;72755;72756 | chr2:178537858;178537857;178537856 | chr2:179402585;179402584;179402583 |
| Novex-2 | 24244 | 72955;72956;72957 | chr2:178537858;178537857;178537856 | chr2:179402585;179402584;179402583 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs878926959  |
None | 0.001 | N | 0.186 | 0.135 | 0.162503812791 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs878926959 |
None | 0.001 | N | 0.186 | 0.135 | 0.162503812791 | gnomAD-4.0.0 | 6.57134E-06 | None | None | None | None | N | None | 0 | 6.54536E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs878926959 |
-0.555 | None | N | 0.121 | 0.111 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/S | rs878926959 |
-0.555 | None | N | 0.121 | 0.111 | None | gnomAD-4.0.0 | 1.59213E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85987E-06 | 0 | 0 |
| A/T | None | None | 0.144 | N | 0.351 | 0.066 | 0.124217242631 | gnomAD-4.0.0 | 1.59213E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6033 | likely_pathogenic | 0.5847 | pathogenic | -0.73 | Destabilizing | 0.982 | D | 0.375 | neutral | None | None | None | None | N |
| A/D | 0.3002 | likely_benign | 0.2928 | benign | -1.085 | Destabilizing | 0.339 | N | 0.386 | neutral | N | 0.366239831 | None | None | N |
| A/E | 0.2471 | likely_benign | 0.2421 | benign | -1.234 | Destabilizing | 0.488 | N | 0.353 | neutral | None | None | None | None | N |
| A/F | 0.4029 | ambiguous | 0.39 | ambiguous | -1.204 | Destabilizing | 0.982 | D | 0.465 | neutral | None | None | None | None | N |
| A/G | 0.1612 | likely_benign | 0.1559 | benign | -0.701 | Destabilizing | 0.01 | N | 0.403 | neutral | N | 0.475255595 | None | None | N |
| A/H | 0.495 | ambiguous | 0.5118 | ambiguous | -0.794 | Destabilizing | 0.995 | D | 0.441 | neutral | None | None | None | None | N |
| A/I | 0.2285 | likely_benign | 0.2413 | benign | -0.536 | Destabilizing | 0.948 | D | 0.385 | neutral | None | None | None | None | N |
| A/K | 0.4358 | ambiguous | 0.435 | ambiguous | -0.912 | Destabilizing | 0.718 | D | 0.35 | neutral | None | None | None | None | N |
| A/L | 0.1805 | likely_benign | 0.1962 | benign | -0.536 | Destabilizing | 0.718 | D | 0.331 | neutral | None | None | None | None | N |
| A/M | 0.2044 | likely_benign | 0.2216 | benign | -0.326 | Destabilizing | 0.995 | D | 0.387 | neutral | None | None | None | None | N |
| A/N | 0.2295 | likely_benign | 0.2333 | benign | -0.518 | Destabilizing | 0.219 | N | 0.415 | neutral | None | None | None | None | N |
| A/P | 0.105 | likely_benign | 0.115 | benign | -0.524 | Destabilizing | 0.001 | N | 0.186 | neutral | N | 0.401141838 | None | None | N |
| A/Q | 0.3161 | likely_benign | 0.333 | benign | -0.87 | Destabilizing | 0.948 | D | 0.381 | neutral | None | None | None | None | N |
| A/R | 0.4316 | ambiguous | 0.4239 | ambiguous | -0.367 | Destabilizing | 0.899 | D | 0.386 | neutral | None | None | None | None | N |
| A/S | 0.0951 | likely_benign | 0.0945 | benign | -0.688 | Destabilizing | None | N | 0.121 | neutral | N | 0.345979202 | None | None | N |
| A/T | 0.0825 | likely_benign | 0.0844 | benign | -0.771 | Destabilizing | 0.144 | N | 0.351 | neutral | N | 0.334474129 | None | None | N |
| A/V | 0.1178 | likely_benign | 0.1248 | benign | -0.524 | Destabilizing | 0.418 | N | 0.358 | neutral | N | 0.4176128 | None | None | N |
| A/W | 0.7914 | likely_pathogenic | 0.79 | pathogenic | -1.35 | Destabilizing | 0.995 | D | 0.613 | neutral | None | None | None | None | N |
| A/Y | 0.5428 | ambiguous | 0.5377 | ambiguous | -1.008 | Destabilizing | 0.982 | D | 0.465 | 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.