Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22524 | 67795;67796;67797 | chr2:178579627;178579626;178579625 | chr2:179444354;179444353;179444352 |
| N2AB | 20883 | 62872;62873;62874 | chr2:178579627;178579626;178579625 | chr2:179444354;179444353;179444352 |
| N2A | 19956 | 60091;60092;60093 | chr2:178579627;178579626;178579625 | chr2:179444354;179444353;179444352 |
| N2B | 13459 | 40600;40601;40602 | chr2:178579627;178579626;178579625 | chr2:179444354;179444353;179444352 |
| Novex-1 | 13584 | 40975;40976;40977 | chr2:178579627;178579626;178579625 | chr2:179444354;179444353;179444352 |
| Novex-2 | 13651 | 41176;41177;41178 | chr2:178579627;178579626;178579625 | chr2:179444354;179444353;179444352 |
| 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/N | rs397517670  |
-1.478 | 0.024 | N | 0.471 | 0.175 | 0.119812018005 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 3.27E-05 | None | 0 | 1.78E-05 | 1.65948E-04 |
| S/N | rs397517670 |
-1.478 | 0.024 | N | 0.471 | 0.175 | 0.119812018005 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14594E-04 | 0 |
| S/N | rs397517670 |
-1.478 | 0.024 | N | 0.471 | 0.175 | 0.119812018005 | gnomAD-4.0.0 | 2.16952E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23145E-05 | None | 0 | 0 | 1.52603E-05 | 1.53725E-04 | 3.20307E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0871 | likely_benign | 0.0819 | benign | -1.292 | Destabilizing | 0.007 | N | 0.421 | neutral | None | None | None | None | N |
| S/C | 0.0559 | likely_benign | 0.0472 | benign | -1.424 | Destabilizing | None | N | 0.62 | neutral | N | 0.491121629 | None | None | N |
| S/D | 0.6081 | likely_pathogenic | 0.6386 | pathogenic | -2.471 | Highly Destabilizing | 0.072 | N | 0.538 | neutral | None | None | None | None | N |
| S/E | 0.5139 | ambiguous | 0.5426 | ambiguous | -2.276 | Highly Destabilizing | 0.016 | N | 0.505 | neutral | None | None | None | None | N |
| S/F | 0.1934 | likely_benign | 0.1448 | benign | -1.124 | Destabilizing | 0.356 | N | 0.688 | prob.neutral | None | None | None | None | N |
| S/G | 0.1066 | likely_benign | 0.1057 | benign | -1.605 | Destabilizing | 0.024 | N | 0.505 | neutral | N | 0.478281318 | None | None | N |
| S/H | 0.2085 | likely_benign | 0.2001 | benign | -1.705 | Destabilizing | 0.356 | N | 0.69 | prob.neutral | None | None | None | None | N |
| S/I | 0.1291 | likely_benign | 0.1351 | benign | -0.503 | Destabilizing | 0.055 | N | 0.675 | neutral | N | 0.448061498 | None | None | N |
| S/K | 0.3112 | likely_benign | 0.3662 | ambiguous | -0.761 | Destabilizing | None | N | 0.187 | neutral | None | None | None | None | N |
| S/L | 0.1042 | likely_benign | 0.096 | benign | -0.503 | Destabilizing | 0.016 | N | 0.627 | neutral | None | None | None | None | N |
| S/M | 0.1509 | likely_benign | 0.1416 | benign | -0.764 | Destabilizing | 0.628 | D | 0.679 | prob.neutral | None | None | None | None | N |
| S/N | 0.1965 | likely_benign | 0.199 | benign | -1.522 | Destabilizing | 0.024 | N | 0.471 | neutral | N | 0.466418034 | None | None | N |
| S/P | 0.9644 | likely_pathogenic | 0.9659 | pathogenic | -0.738 | Destabilizing | 0.136 | N | 0.685 | prob.neutral | None | None | None | None | N |
| S/Q | 0.2949 | likely_benign | 0.3085 | benign | -1.337 | Destabilizing | 0.072 | N | 0.583 | neutral | None | None | None | None | N |
| S/R | 0.2026 | likely_benign | 0.2566 | benign | -0.939 | Destabilizing | None | N | 0.393 | neutral | N | 0.419738746 | None | None | N |
| S/T | 0.0904 | likely_benign | 0.089 | benign | -1.136 | Destabilizing | 0.024 | N | 0.495 | neutral | N | 0.459219854 | None | None | N |
| S/V | 0.1557 | likely_benign | 0.1492 | benign | -0.738 | Destabilizing | 0.038 | N | 0.653 | neutral | None | None | None | None | N |
| S/W | 0.2496 | likely_benign | 0.2429 | benign | -1.408 | Destabilizing | 0.864 | D | 0.683 | prob.neutral | None | None | None | None | N |
| S/Y | 0.1844 | likely_benign | 0.1525 | benign | -0.992 | Destabilizing | 0.356 | N | 0.688 | 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.