Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17493 | 52702;52703;52704 | chr2:178608406;178608405;178608404 | chr2:179473133;179473132;179473131 |
| N2AB | 15852 | 47779;47780;47781 | chr2:178608406;178608405;178608404 | chr2:179473133;179473132;179473131 |
| N2A | 14925 | 44998;44999;45000 | chr2:178608406;178608405;178608404 | chr2:179473133;179473132;179473131 |
| N2B | 8428 | 25507;25508;25509 | chr2:178608406;178608405;178608404 | chr2:179473133;179473132;179473131 |
| Novex-1 | 8553 | 25882;25883;25884 | chr2:178608406;178608405;178608404 | chr2:179473133;179473132;179473131 |
| Novex-2 | 8620 | 26083;26084;26085 | chr2:178608406;178608405;178608404 | chr2:179473133;179473132;179473131 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs2055442864  |
None | 0.998 | N | 0.685 | 0.356 | 0.425615883737 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs2055442864 |
None | 0.998 | N | 0.685 | 0.356 | 0.425615883737 | gnomAD-4.0.0 | 6.57843E-06 | None | None | None | None | N | None | 0 | 6.55566E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs1046078803 |
-0.534 | 0.998 | N | 0.567 | 0.223 | 0.250579442822 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.18E-06 | 0 |
| E/Q | rs1046078803 |
-0.534 | 0.998 | N | 0.567 | 0.223 | 0.250579442822 | gnomAD-4.0.0 | 8.00538E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14943E-05 | 0 | 3.03841E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1606 | likely_benign | 0.1514 | benign | -0.211 | Destabilizing | 0.989 | D | 0.545 | neutral | N | 0.431147819 | None | None | N |
| E/C | 0.8478 | likely_pathogenic | 0.8464 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/D | 0.3795 | ambiguous | 0.3452 | ambiguous | -0.857 | Destabilizing | 0.998 | D | 0.437 | neutral | N | 0.502954776 | None | None | N |
| E/F | 0.8144 | likely_pathogenic | 0.7988 | pathogenic | 0.344 | Stabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| E/G | 0.3219 | likely_benign | 0.3096 | benign | -0.497 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | N | 0.504050854 | None | None | N |
| E/H | 0.6298 | likely_pathogenic | 0.615 | pathogenic | 0.651 | Stabilizing | 1.0 | D | 0.606 | neutral | None | None | None | None | N |
| E/I | 0.2841 | likely_benign | 0.2723 | benign | 0.546 | Stabilizing | 0.995 | D | 0.755 | deleterious | None | None | None | None | N |
| E/K | 0.1183 | likely_benign | 0.1184 | benign | -0.054 | Destabilizing | 0.994 | D | 0.455 | neutral | N | 0.475613459 | None | None | N |
| E/L | 0.3972 | ambiguous | 0.3813 | ambiguous | 0.546 | Stabilizing | 0.983 | D | 0.618 | neutral | None | None | None | None | N |
| E/M | 0.4328 | ambiguous | 0.4185 | ambiguous | 0.371 | Stabilizing | 0.96 | D | 0.434 | neutral | None | None | None | None | N |
| E/N | 0.5387 | ambiguous | 0.5067 | ambiguous | -0.605 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| E/P | 0.3466 | ambiguous | 0.3498 | ambiguous | 0.314 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| E/Q | 0.1526 | likely_benign | 0.1469 | benign | -0.468 | Destabilizing | 0.998 | D | 0.567 | neutral | N | 0.479808557 | None | None | N |
| E/R | 0.2445 | likely_benign | 0.2404 | benign | 0.377 | Stabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| E/S | 0.3492 | ambiguous | 0.3316 | benign | -0.806 | Destabilizing | 0.996 | D | 0.531 | neutral | None | None | None | None | N |
| E/T | 0.3003 | likely_benign | 0.2815 | benign | -0.547 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | None | None | None | None | N |
| E/V | 0.1649 | likely_benign | 0.1602 | benign | 0.314 | Stabilizing | 0.978 | D | 0.643 | neutral | N | 0.502530701 | None | None | N |
| E/W | 0.957 | likely_pathogenic | 0.9518 | pathogenic | 0.529 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/Y | 0.7175 | likely_pathogenic | 0.6981 | pathogenic | 0.606 | Stabilizing | 1.0 | D | 0.777 | deleterious | 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.