Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24352 | 73279;73280;73281 | chr2:178573078;178573077;178573076 | chr2:179437805;179437804;179437803 |
| N2AB | 22711 | 68356;68357;68358 | chr2:178573078;178573077;178573076 | chr2:179437805;179437804;179437803 |
| N2A | 21784 | 65575;65576;65577 | chr2:178573078;178573077;178573076 | chr2:179437805;179437804;179437803 |
| N2B | 15287 | 46084;46085;46086 | chr2:178573078;178573077;178573076 | chr2:179437805;179437804;179437803 |
| Novex-1 | 15412 | 46459;46460;46461 | chr2:178573078;178573077;178573076 | chr2:179437805;179437804;179437803 |
| Novex-2 | 15479 | 46660;46661;46662 | chr2:178573078;178573077;178573076 | chr2:179437805;179437804;179437803 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.623 | 0.405 | 0.353125101423 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | rs776994068  |
-0.176 | 1.0 | N | 0.803 | 0.456 | 0.759444997776 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/R | rs776994068 |
-0.176 | 1.0 | N | 0.803 | 0.456 | 0.759444997776 | gnomAD-4.0.0 | 3.1849E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86599E-05 | 0 |
| G/S | None | None | 1.0 | N | 0.715 | 0.417 | 0.374434639691 | gnomAD-4.0.0 | 1.59245E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 0 |
| G/V | rs1708827755 |
None | 1.0 | D | 0.797 | 0.483 | 0.873030924565 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8128 | likely_pathogenic | 0.7941 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.497261401 | None | None | I |
| G/C | 0.874 | likely_pathogenic | 0.848 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.539194356 | None | None | I |
| G/D | 0.9515 | likely_pathogenic | 0.9443 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.506642696 | None | None | I |
| G/E | 0.966 | likely_pathogenic | 0.965 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/F | 0.9774 | likely_pathogenic | 0.9771 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/H | 0.9625 | likely_pathogenic | 0.9624 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/I | 0.9686 | likely_pathogenic | 0.9696 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9583 | likely_pathogenic | 0.9637 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/L | 0.9657 | likely_pathogenic | 0.9637 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/M | 0.9734 | likely_pathogenic | 0.9715 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/N | 0.892 | likely_pathogenic | 0.8895 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/P | 0.9964 | likely_pathogenic | 0.9971 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Q | 0.9397 | likely_pathogenic | 0.9434 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/R | 0.9139 | likely_pathogenic | 0.9208 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.507403165 | None | None | I |
| G/S | 0.6609 | likely_pathogenic | 0.6466 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.509187137 | None | None | I |
| G/T | 0.9291 | likely_pathogenic | 0.9286 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/V | 0.9561 | likely_pathogenic | 0.9554 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.538687377 | None | None | I |
| G/W | 0.9723 | likely_pathogenic | 0.9703 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/Y | 0.9647 | likely_pathogenic | 0.9618 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
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.