Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24108 | 72547;72548;72549 | chr2:178573810;178573809;178573808 | chr2:179438537;179438536;179438535 |
| N2AB | 22467 | 67624;67625;67626 | chr2:178573810;178573809;178573808 | chr2:179438537;179438536;179438535 |
| N2A | 21540 | 64843;64844;64845 | chr2:178573810;178573809;178573808 | chr2:179438537;179438536;179438535 |
| N2B | 15043 | 45352;45353;45354 | chr2:178573810;178573809;178573808 | chr2:179438537;179438536;179438535 |
| Novex-1 | 15168 | 45727;45728;45729 | chr2:178573810;178573809;178573808 | chr2:179438537;179438536;179438535 |
| Novex-2 | 15235 | 45928;45929;45930 | chr2:178573810;178573809;178573808 | chr2:179438537;179438536;179438535 |
| 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/D | rs1056756805  |
0.081 | 1.0 | N | 0.689 | 0.56 | 0.470318359215 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1056756805 |
0.081 | 1.0 | N | 0.689 | 0.56 | 0.470318359215 | gnomAD-4.0.0 | 2.74118E-06 | None | None | None | None | I | None | 0 | 2.24487E-05 | None | 0 | 0 | None | 0 | 0 | 2.70181E-06 | 0 | 0 |
| G/R | rs1709100410 |
None | 1.0 | D | 0.747 | 0.524 | 0.72159696503 | gnomAD-4.0.0 | 1.59746E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.78272E-05 | 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 | 0.1448 | likely_benign | 0.1597 | benign | -0.347 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.38406124 | None | None | I |
| G/C | 0.3587 | ambiguous | 0.3969 | ambiguous | -0.997 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.528133727 | None | None | I |
| G/D | 0.9006 | likely_pathogenic | 0.8924 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.496190169 | None | None | I |
| G/E | 0.8723 | likely_pathogenic | 0.8648 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/F | 0.8569 | likely_pathogenic | 0.8543 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/H | 0.8868 | likely_pathogenic | 0.882 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| G/I | 0.749 | likely_pathogenic | 0.7264 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/K | 0.9407 | likely_pathogenic | 0.9327 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| G/L | 0.7634 | likely_pathogenic | 0.7798 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/M | 0.8216 | likely_pathogenic | 0.8226 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/N | 0.8521 | likely_pathogenic | 0.8497 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| G/P | 0.9932 | likely_pathogenic | 0.9927 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/Q | 0.8526 | likely_pathogenic | 0.8499 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| G/R | 0.8348 | likely_pathogenic | 0.829 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.525093422 | None | None | I |
| G/S | 0.2327 | likely_benign | 0.2508 | benign | -0.561 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.465525043 | None | None | I |
| G/T | 0.5647 | likely_pathogenic | 0.5457 | ambiguous | -0.653 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/V | 0.535 | ambiguous | 0.5279 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.433161909 | None | None | I |
| G/W | 0.8438 | likely_pathogenic | 0.8281 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| G/Y | 0.8421 | likely_pathogenic | 0.8444 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | 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.