Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17299 | 52120;52121;52122 | chr2:178609415;178609414;178609413 | chr2:179474142;179474141;179474140 |
| N2AB | 15658 | 47197;47198;47199 | chr2:178609415;178609414;178609413 | chr2:179474142;179474141;179474140 |
| N2A | 14731 | 44416;44417;44418 | chr2:178609415;178609414;178609413 | chr2:179474142;179474141;179474140 |
| N2B | 8234 | 24925;24926;24927 | chr2:178609415;178609414;178609413 | chr2:179474142;179474141;179474140 |
| Novex-1 | 8359 | 25300;25301;25302 | chr2:178609415;178609414;178609413 | chr2:179474142;179474141;179474140 |
| Novex-2 | 8426 | 25501;25502;25503 | chr2:178609415;178609414;178609413 | chr2:179474142;179474141;179474140 |
| 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/L | rs369648778  |
-1.327 | None | N | 0.659 | 0.099 | None | gnomAD-2.1.1 | 7.52E-05 | None | None | None | None | N | None | 0 | 8.51E-05 | None | 9.69E-05 | 0 | None | 0 | None | 0 | 1.25339E-04 | 1.40964E-04 |
| P/L | rs369648778 |
-1.327 | None | N | 0.659 | 0.099 | None | gnomAD-3.1.2 | 7.91E-05 | None | None | None | None | N | None | 2.42E-05 | 1.97109E-04 | 0 | 0 | 0 | None | 9.45E-05 | 0 | 8.83E-05 | 0 | 4.80307E-04 |
| P/L | rs369648778 |
-1.327 | None | N | 0.659 | 0.099 | None | gnomAD-4.0.0 | 7.87856E-05 | None | None | None | None | N | None | 1.33776E-05 | 1.83713E-04 | None | 1.01509E-04 | 0 | None | 1.56485E-05 | 0 | 8.31202E-05 | 1.099E-05 | 1.9245E-04 |
| P/T | None | None | None | N | 0.495 | 0.051 | 0.15556083564 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0688 | likely_benign | 0.0696 | benign | -0.449 | Destabilizing | None | N | 0.481 | neutral | N | 0.462287163 | None | None | N |
| P/C | 0.3253 | likely_benign | 0.3301 | benign | -0.87 | Destabilizing | 0.356 | N | 0.678 | prob.neutral | None | None | None | None | N |
| P/D | 0.2744 | likely_benign | 0.2658 | benign | -0.483 | Destabilizing | 0.072 | N | 0.68 | prob.neutral | None | None | None | None | N |
| P/E | 0.1777 | likely_benign | 0.1723 | benign | -0.588 | Destabilizing | 0.016 | N | 0.636 | neutral | None | None | None | None | N |
| P/F | 0.2811 | likely_benign | 0.281 | benign | -0.867 | Destabilizing | 0.214 | N | 0.705 | prob.neutral | None | None | None | None | N |
| P/G | 0.1754 | likely_benign | 0.1775 | benign | -0.481 | Destabilizing | 0.016 | N | 0.645 | neutral | None | None | None | None | N |
| P/H | 0.1187 | likely_benign | 0.1197 | benign | -0.12 | Destabilizing | 0.56 | D | 0.671 | neutral | N | 0.463500671 | None | None | N |
| P/I | 0.1594 | likely_benign | 0.1651 | benign | -0.487 | Destabilizing | None | N | 0.688 | prob.neutral | None | None | None | None | N |
| P/K | 0.1423 | likely_benign | 0.1437 | benign | -0.498 | Destabilizing | None | N | 0.501 | neutral | None | None | None | None | N |
| P/L | 0.1086 | likely_benign | 0.1097 | benign | -0.487 | Destabilizing | None | N | 0.659 | neutral | N | 0.463153955 | None | None | N |
| P/M | 0.2194 | likely_benign | 0.2225 | benign | -0.786 | Destabilizing | 0.214 | N | 0.673 | neutral | None | None | None | None | N |
| P/N | 0.1728 | likely_benign | 0.1797 | benign | -0.296 | Destabilizing | 0.072 | N | 0.677 | prob.neutral | None | None | None | None | N |
| P/Q | 0.1005 | likely_benign | 0.0994 | benign | -0.478 | Destabilizing | 0.072 | N | 0.703 | prob.neutral | None | None | None | None | N |
| P/R | 0.1135 | likely_benign | 0.1143 | benign | -0.113 | Destabilizing | None | N | 0.646 | neutral | N | 0.403028216 | None | None | N |
| P/S | 0.0916 | likely_benign | 0.0937 | benign | -0.576 | Destabilizing | 0.001 | N | 0.494 | neutral | N | 0.462460521 | None | None | N |
| P/T | 0.0721 | likely_benign | 0.0749 | benign | -0.601 | Destabilizing | None | N | 0.495 | neutral | N | 0.425462358 | None | None | N |
| P/V | 0.1119 | likely_benign | 0.1136 | benign | -0.452 | Destabilizing | 0.016 | N | 0.645 | neutral | None | None | None | None | N |
| P/W | 0.4551 | ambiguous | 0.4404 | ambiguous | -0.908 | Destabilizing | 0.864 | D | 0.699 | prob.neutral | None | None | None | None | N |
| P/Y | 0.2439 | likely_benign | 0.2502 | benign | -0.67 | Destabilizing | 0.356 | N | 0.694 | 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.