Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19188 | 57787;57788;57789 | chr2:178595792;178595791;178595790 | chr2:179460519;179460518;179460517 |
| N2AB | 17547 | 52864;52865;52866 | chr2:178595792;178595791;178595790 | chr2:179460519;179460518;179460517 |
| N2A | 16620 | 50083;50084;50085 | chr2:178595792;178595791;178595790 | chr2:179460519;179460518;179460517 |
| N2B | 10123 | 30592;30593;30594 | chr2:178595792;178595791;178595790 | chr2:179460519;179460518;179460517 |
| Novex-1 | 10248 | 30967;30968;30969 | chr2:178595792;178595791;178595790 | chr2:179460519;179460518;179460517 |
| Novex-2 | 10315 | 31168;31169;31170 | chr2:178595792;178595791;178595790 | chr2:179460519;179460518;179460517 |
| 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/R | None | None | 0.413 | N | 0.365 | 0.242 | 0.393623145366 | gnomAD-4.0.0 | 6.89016E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03271E-07 | 0 | 0 |
| G/V | None | None | 0.993 | N | 0.788 | 0.447 | 0.522129480193 | gnomAD-4.0.0 | 1.61777E-06 | None | None | None | None | N | None | 0 | 2.36619E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1352 | likely_benign | 0.1693 | benign | -0.441 | Destabilizing | 0.955 | D | 0.539 | neutral | N | 0.466628162 | None | None | N |
| G/C | 0.2448 | likely_benign | 0.3191 | benign | -0.659 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/D | 0.4095 | ambiguous | 0.5338 | ambiguous | -0.946 | Destabilizing | 0.995 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/E | 0.3159 | likely_benign | 0.4294 | ambiguous | -0.921 | Destabilizing | 0.993 | D | 0.74 | deleterious | N | 0.495465869 | None | None | N |
| G/F | 0.7262 | likely_pathogenic | 0.825 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/H | 0.5232 | ambiguous | 0.6415 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/I | 0.4227 | ambiguous | 0.5584 | ambiguous | 0.209 | Stabilizing | 0.998 | D | 0.825 | deleterious | None | None | None | None | N |
| G/K | 0.4469 | ambiguous | 0.5786 | pathogenic | -1.075 | Destabilizing | 0.99 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/L | 0.5017 | ambiguous | 0.6242 | pathogenic | 0.209 | Stabilizing | 0.995 | D | 0.776 | deleterious | None | None | None | None | N |
| G/M | 0.548 | ambiguous | 0.657 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/N | 0.3961 | ambiguous | 0.4946 | ambiguous | -0.848 | Destabilizing | 0.995 | D | 0.74 | deleterious | None | None | None | None | N |
| G/P | 0.9148 | likely_pathogenic | 0.9379 | pathogenic | 0.038 | Stabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | N |
| G/Q | 0.3565 | ambiguous | 0.4518 | ambiguous | -0.856 | Destabilizing | 0.995 | D | 0.8 | deleterious | None | None | None | None | N |
| G/R | 0.3312 | likely_benign | 0.442 | ambiguous | -1.017 | Destabilizing | 0.413 | N | 0.365 | neutral | N | 0.507162943 | None | None | N |
| G/S | 0.119 | likely_benign | 0.1438 | benign | -1.155 | Destabilizing | 0.635 | D | 0.337 | neutral | None | None | None | None | N |
| G/T | 0.209 | likely_benign | 0.2705 | benign | -1.026 | Destabilizing | 0.99 | D | 0.741 | deleterious | None | None | None | None | N |
| G/V | 0.2861 | likely_benign | 0.3907 | ambiguous | 0.038 | Stabilizing | 0.993 | D | 0.788 | deleterious | N | 0.470413598 | None | None | N |
| G/W | 0.649 | likely_pathogenic | 0.7625 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Y | 0.6011 | likely_pathogenic | 0.7299 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.831 | 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.