Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3042 | 9349;9350;9351 | chr2:178768712;178768711;178768710 | chr2:179633439;179633438;179633437 |
| N2AB | 3042 | 9349;9350;9351 | chr2:178768712;178768711;178768710 | chr2:179633439;179633438;179633437 |
| N2A | 3042 | 9349;9350;9351 | chr2:178768712;178768711;178768710 | chr2:179633439;179633438;179633437 |
| N2B | 2996 | 9211;9212;9213 | chr2:178768712;178768711;178768710 | chr2:179633439;179633438;179633437 |
| Novex-1 | 2996 | 9211;9212;9213 | chr2:178768712;178768711;178768710 | chr2:179633439;179633438;179633437 |
| Novex-2 | 2996 | 9211;9212;9213 | chr2:178768712;178768711;178768710 | chr2:179633439;179633438;179633437 |
| Novex-3 | 3042 | 9349;9350;9351 | chr2:178768712;178768711;178768710 | chr2:179633439;179633438;179633437 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 1.0 | D | 0.876 | 0.823 | 0.878151891063 | gnomAD-4.0.0 | 6.84096E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| A/S | rs756542210  |
-1.54 | 1.0 | D | 0.573 | 0.637 | 0.558302604704 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96027E-04 | None | 0 | 1.76E-05 | 0 |
| A/S | rs756542210 |
-1.54 | 1.0 | D | 0.573 | 0.637 | 0.558302604704 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| A/S | rs756542210 |
-1.54 | 1.0 | D | 0.573 | 0.637 | 0.558302604704 | gnomAD-4.0.0 | 1.2391E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.30033E-04 | 3.38979E-06 | 1.53711E-04 | 0 |
| A/T | None | None | 1.0 | D | 0.747 | 0.665 | 0.586357277508 | gnomAD-4.0.0 | 1.36819E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79859E-06 | 0 | 0 |
| A/V | None | None | 1.0 | D | 0.623 | 0.564 | 0.690083970411 | gnomAD-4.0.0 | 6.84096E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99295E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.821 | likely_pathogenic | 0.8512 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/D | 0.9953 | likely_pathogenic | 0.9962 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.719004861 | None | None | N |
| A/E | 0.9948 | likely_pathogenic | 0.9953 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/F | 0.9746 | likely_pathogenic | 0.9768 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/G | 0.6182 | likely_pathogenic | 0.6543 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.568 | neutral | D | 0.719760101 | None | None | N |
| A/H | 0.9946 | likely_pathogenic | 0.9962 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/I | 0.9102 | likely_pathogenic | 0.9201 | pathogenic | 0.495 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/K | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/L | 0.8347 | likely_pathogenic | 0.8335 | pathogenic | 0.495 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/M | 0.9303 | likely_pathogenic | 0.9341 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/N | 0.9908 | likely_pathogenic | 0.9924 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/P | 0.993 | likely_pathogenic | 0.994 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.861 | deleterious | D | 0.583466744 | None | None | N |
| A/Q | 0.9917 | likely_pathogenic | 0.9935 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/R | 0.9913 | likely_pathogenic | 0.9939 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/S | 0.4907 | ambiguous | 0.5022 | ambiguous | -1.225 | Destabilizing | 1.0 | D | 0.573 | neutral | D | 0.659113934 | None | None | N |
| A/T | 0.7278 | likely_pathogenic | 0.7467 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.611231547 | None | None | N |
| A/V | 0.6857 | likely_pathogenic | 0.7007 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.623 | neutral | D | 0.549981343 | None | None | N |
| A/W | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/Y | 0.9899 | likely_pathogenic | 0.9923 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.885 | 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.