Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33118 | 99577;99578;99579 | chr2:178537855;178537854;178537853 | chr2:179402582;179402581;179402580 |
| N2AB | 31477 | 94654;94655;94656 | chr2:178537855;178537854;178537853 | chr2:179402582;179402581;179402580 |
| N2A | 30550 | 91873;91874;91875 | chr2:178537855;178537854;178537853 | chr2:179402582;179402581;179402580 |
| N2B | 24053 | 72382;72383;72384 | chr2:178537855;178537854;178537853 | chr2:179402582;179402581;179402580 |
| Novex-1 | 24178 | 72757;72758;72759 | chr2:178537855;178537854;178537853 | chr2:179402582;179402581;179402580 |
| Novex-2 | 24245 | 72958;72959;72960 | chr2:178537855;178537854;178537853 | chr2:179402582;179402581;179402580 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1403450047  |
-1.873 | 0.909 | N | 0.598 | 0.382 | 0.317084106153 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/T | None | None | 0.994 | N | 0.663 | 0.449 | 0.319114376414 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85987E-06 | 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 | 0.5551 | ambiguous | 0.604 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| A/D | 0.9613 | likely_pathogenic | 0.9596 | pathogenic | -1.507 | Destabilizing | 0.999 | D | 0.783 | deleterious | N | 0.499007876 | None | None | N |
| A/E | 0.9331 | likely_pathogenic | 0.9397 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/F | 0.8276 | likely_pathogenic | 0.8639 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/G | 0.1548 | likely_benign | 0.1399 | benign | -1.31 | Destabilizing | 0.006 | N | 0.316 | neutral | N | 0.459000705 | None | None | N |
| A/H | 0.9546 | likely_pathogenic | 0.9653 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| A/I | 0.5809 | likely_pathogenic | 0.6511 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/K | 0.9673 | likely_pathogenic | 0.9755 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/L | 0.5611 | ambiguous | 0.6365 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/M | 0.6411 | likely_pathogenic | 0.7176 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/N | 0.8991 | likely_pathogenic | 0.9101 | pathogenic | -1.129 | Destabilizing | 0.993 | D | 0.785 | deleterious | None | None | None | None | N |
| A/P | 0.9472 | likely_pathogenic | 0.9473 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.480650132 | None | None | N |
| A/Q | 0.8924 | likely_pathogenic | 0.9161 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| A/R | 0.9308 | likely_pathogenic | 0.9456 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/S | 0.1774 | likely_benign | 0.1799 | benign | -1.453 | Destabilizing | 0.909 | D | 0.598 | neutral | N | 0.475623702 | None | None | N |
| A/T | 0.1984 | likely_benign | 0.226 | benign | -1.4 | Destabilizing | 0.994 | D | 0.663 | neutral | N | 0.499116676 | None | None | N |
| A/V | 0.2664 | likely_benign | 0.3223 | benign | -0.654 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.392925 | None | None | N |
| A/W | 0.9858 | likely_pathogenic | 0.9894 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/Y | 0.9454 | likely_pathogenic | 0.9576 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.781 | 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.