Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2368 | 7327;7328;7329 | chr2:178774066;178774065;178774064 | chr2:179638793;179638792;179638791 |
| N2AB | 2368 | 7327;7328;7329 | chr2:178774066;178774065;178774064 | chr2:179638793;179638792;179638791 |
| N2A | 2368 | 7327;7328;7329 | chr2:178774066;178774065;178774064 | chr2:179638793;179638792;179638791 |
| N2B | 2322 | 7189;7190;7191 | chr2:178774066;178774065;178774064 | chr2:179638793;179638792;179638791 |
| Novex-1 | 2322 | 7189;7190;7191 | chr2:178774066;178774065;178774064 | chr2:179638793;179638792;179638791 |
| Novex-2 | 2322 | 7189;7190;7191 | chr2:178774066;178774065;178774064 | chr2:179638793;179638792;179638791 |
| Novex-3 | 2368 | 7327;7328;7329 | chr2:178774066;178774065;178774064 | chr2:179638793;179638792;179638791 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 1.0 | N | 0.736 | 0.568 | 0.807600315609 | gnomAD-4.0.0 | 1.59067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02151E-05 |
| C/G | rs1205174155  |
-0.964 | 1.0 | N | 0.739 | 0.668 | 0.848466065415 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| C/G | rs1205174155 |
-0.964 | 1.0 | N | 0.739 | 0.668 | 0.848466065415 | gnomAD-4.0.0 | 1.59066E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77316E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/W | rs1485265360 |
None | 1.0 | N | 0.72 | 0.453 | 0.598957545849 | gnomAD-4.0.0 | 1.59065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85664E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7279 | likely_pathogenic | 0.6839 | pathogenic | -0.427 | Destabilizing | 0.998 | D | 0.595 | neutral | None | None | None | None | N |
| C/D | 0.9832 | likely_pathogenic | 0.9799 | pathogenic | 0.392 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| C/E | 0.9882 | likely_pathogenic | 0.9858 | pathogenic | 0.34 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| C/F | 0.5627 | ambiguous | 0.5253 | ambiguous | -0.554 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.497147967 | None | None | N |
| C/G | 0.5766 | likely_pathogenic | 0.5357 | ambiguous | -0.517 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.504080339 | None | None | N |
| C/H | 0.9408 | likely_pathogenic | 0.9278 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| C/I | 0.8523 | likely_pathogenic | 0.8317 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| C/K | 0.9871 | likely_pathogenic | 0.9846 | pathogenic | 0.167 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| C/L | 0.7323 | likely_pathogenic | 0.7138 | pathogenic | -0.282 | Destabilizing | 0.999 | D | 0.582 | neutral | None | None | None | None | N |
| C/M | 0.8611 | likely_pathogenic | 0.8431 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| C/N | 0.9119 | likely_pathogenic | 0.8915 | pathogenic | 0.484 | Stabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| C/P | 0.9637 | likely_pathogenic | 0.9623 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| C/Q | 0.957 | likely_pathogenic | 0.9489 | pathogenic | 0.308 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| C/R | 0.9088 | likely_pathogenic | 0.8987 | pathogenic | 0.493 | Stabilizing | 1.0 | D | 0.755 | deleterious | N | 0.490264555 | None | None | N |
| C/S | 0.6776 | likely_pathogenic | 0.6204 | pathogenic | 0.066 | Stabilizing | 1.0 | D | 0.635 | neutral | N | 0.482789383 | None | None | N |
| C/T | 0.7871 | likely_pathogenic | 0.7471 | pathogenic | 0.119 | Stabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| C/V | 0.7328 | likely_pathogenic | 0.7059 | pathogenic | -0.309 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| C/W | 0.9049 | likely_pathogenic | 0.8907 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.510185841 | None | None | N |
| C/Y | 0.7864 | likely_pathogenic | 0.76 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.492365868 | 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.