Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16402 | 49429;49430;49431 | chr2:178614193;178614192;178614191 | chr2:179478920;179478919;179478918 |
| N2AB | 14761 | 44506;44507;44508 | chr2:178614193;178614192;178614191 | chr2:179478920;179478919;179478918 |
| N2A | 13834 | 41725;41726;41727 | chr2:178614193;178614192;178614191 | chr2:179478920;179478919;179478918 |
| N2B | 7337 | 22234;22235;22236 | chr2:178614193;178614192;178614191 | chr2:179478920;179478919;179478918 |
| Novex-1 | 7462 | 22609;22610;22611 | chr2:178614193;178614192;178614191 | chr2:179478920;179478919;179478918 |
| Novex-2 | 7529 | 22810;22811;22812 | chr2:178614193;178614192;178614191 | chr2:179478920;179478919;179478918 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs772357820  |
0.001 | 1.0 | N | 0.686 | 0.407 | 0.573547766065 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 2.68E-05 | 0 |
| S/L | rs772357820 |
0.001 | 1.0 | N | 0.686 | 0.407 | 0.573547766065 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/L | rs772357820 |
0.001 | 1.0 | N | 0.686 | 0.407 | 0.573547766065 | gnomAD-4.0.0 | 2.23273E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88332E-05 | 1.0983E-05 | 1.60298E-05 |
| S/P | rs1413819642 |
None | 1.0 | D | 0.749 | 0.505 | 0.357724736475 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/P | rs1413819642 |
None | 1.0 | D | 0.749 | 0.505 | 0.357724736475 | gnomAD-4.0.0 | 6.58631E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47345E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1585 | likely_benign | 0.1573 | benign | -0.774 | Destabilizing | 0.997 | D | 0.462 | neutral | N | 0.477669082 | None | None | N |
| S/C | 0.1873 | likely_benign | 0.1826 | benign | -0.443 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/D | 0.9105 | likely_pathogenic | 0.8659 | pathogenic | 0.525 | Stabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| S/E | 0.953 | likely_pathogenic | 0.9369 | pathogenic | 0.556 | Stabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| S/F | 0.7433 | likely_pathogenic | 0.6996 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| S/G | 0.3269 | likely_benign | 0.2981 | benign | -1.033 | Destabilizing | 0.999 | D | 0.528 | neutral | None | None | None | None | N |
| S/H | 0.8176 | likely_pathogenic | 0.7655 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| S/I | 0.7017 | likely_pathogenic | 0.6609 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| S/K | 0.9839 | likely_pathogenic | 0.9764 | pathogenic | -0.197 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | N |
| S/L | 0.3307 | likely_benign | 0.2991 | benign | -0.186 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.503861437 | None | None | N |
| S/M | 0.5738 | likely_pathogenic | 0.5326 | ambiguous | -0.094 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| S/N | 0.5825 | likely_pathogenic | 0.4909 | ambiguous | -0.268 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| S/P | 0.9809 | likely_pathogenic | 0.9771 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.531304127 | None | None | N |
| S/Q | 0.9108 | likely_pathogenic | 0.8878 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| S/R | 0.9718 | likely_pathogenic | 0.9633 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| S/T | 0.1844 | likely_benign | 0.1686 | benign | -0.36 | Destabilizing | 0.999 | D | 0.503 | neutral | N | 0.479447667 | None | None | N |
| S/V | 0.5902 | likely_pathogenic | 0.5607 | ambiguous | -0.349 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| S/W | 0.8683 | likely_pathogenic | 0.8357 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| S/Y | 0.6699 | likely_pathogenic | 0.606 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.763 | 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.