Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24375 | 73348;73349;73350 | chr2:178573009;178573008;178573007 | chr2:179437736;179437735;179437734 |
| N2AB | 22734 | 68425;68426;68427 | chr2:178573009;178573008;178573007 | chr2:179437736;179437735;179437734 |
| N2A | 21807 | 65644;65645;65646 | chr2:178573009;178573008;178573007 | chr2:179437736;179437735;179437734 |
| N2B | 15310 | 46153;46154;46155 | chr2:178573009;178573008;178573007 | chr2:179437736;179437735;179437734 |
| Novex-1 | 15435 | 46528;46529;46530 | chr2:178573009;178573008;178573007 | chr2:179437736;179437735;179437734 |
| Novex-2 | 15502 | 46729;46730;46731 | chr2:178573009;178573008;178573007 | chr2:179437736;179437735;179437734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs376041680  |
-0.606 | 1.0 | N | 0.787 | 0.427 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/L | rs376041680 |
-0.606 | 1.0 | N | 0.787 | 0.427 | None | gnomAD-4.0.0 | 3.62785E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49848E-05 | 0 | 4.9715E-05 |
| P/T | None | None | 1.0 | N | 0.785 | 0.344 | 0.499409231958 | gnomAD-4.0.0 | 1.59281E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78676E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1184 | likely_benign | 0.1172 | benign | -0.561 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.509184528 | None | None | N |
| P/C | 0.602 | likely_pathogenic | 0.5891 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| P/D | 0.529 | ambiguous | 0.536 | ambiguous | -0.248 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/E | 0.3433 | ambiguous | 0.3462 | ambiguous | -0.341 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/F | 0.6165 | likely_pathogenic | 0.5994 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| P/G | 0.3825 | ambiguous | 0.3864 | ambiguous | -0.72 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/H | 0.2643 | likely_benign | 0.2605 | benign | -0.241 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| P/I | 0.4263 | ambiguous | 0.4081 | ambiguous | -0.283 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/K | 0.3281 | likely_benign | 0.3337 | benign | -0.522 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/L | 0.161 | likely_benign | 0.1511 | benign | -0.283 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.470703498 | None | None | N |
| P/M | 0.3902 | ambiguous | 0.3746 | ambiguous | -0.403 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| P/N | 0.389 | ambiguous | 0.3979 | ambiguous | -0.282 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/Q | 0.2027 | likely_benign | 0.2043 | benign | -0.486 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.51324634 | None | None | N |
| P/R | 0.2636 | likely_benign | 0.2644 | benign | -0.026 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.4911962 | None | None | N |
| P/S | 0.1477 | likely_benign | 0.1462 | benign | -0.678 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.480133844 | None | None | N |
| P/T | 0.1503 | likely_benign | 0.1459 | benign | -0.663 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.449445578 | None | None | N |
| P/V | 0.2892 | likely_benign | 0.2785 | benign | -0.341 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/W | 0.8017 | likely_pathogenic | 0.7908 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/Y | 0.5655 | likely_pathogenic | 0.5632 | ambiguous | -0.466 | Destabilizing | 1.0 | D | 0.771 | 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.