Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9783 | 29572;29573;29574 | chr2:178706527;178706526;178706525 | chr2:179571254;179571253;179571252 |
| N2AB | 9466 | 28621;28622;28623 | chr2:178706527;178706526;178706525 | chr2:179571254;179571253;179571252 |
| N2A | 8539 | 25840;25841;25842 | chr2:178706527;178706526;178706525 | chr2:179571254;179571253;179571252 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | rs1254488322  |
0.222 | 0.876 | None | 0.721 | 0.239 | 0.66477970535 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| N/I | rs1254488322 |
0.222 | 0.876 | None | 0.721 | 0.239 | 0.66477970535 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79887E-06 | 0 | 0 |
| N/K | rs1183091830 |
None | 0.801 | None | 0.529 | 0.194 | 0.0884992946249 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs1183091830 |
None | 0.801 | None | 0.529 | 0.194 | 0.0884992946249 | gnomAD-4.0.0 | 6.19684E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62817E-06 | 0 | 1.60097E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3288 | likely_benign | 0.2711 | benign | -0.603 | Destabilizing | 0.525 | D | 0.6 | neutral | None | None | None | None | I |
| N/C | 0.4999 | ambiguous | 0.4156 | ambiguous | 0.177 | Stabilizing | 0.998 | D | 0.692 | prob.neutral | None | None | None | None | I |
| N/D | 0.2663 | likely_benign | 0.2017 | benign | -0.073 | Destabilizing | 0.801 | D | 0.526 | neutral | None | None | None | None | I |
| N/E | 0.668 | likely_pathogenic | 0.5681 | pathogenic | -0.073 | Destabilizing | 0.842 | D | 0.531 | neutral | None | None | None | None | I |
| N/F | 0.7407 | likely_pathogenic | 0.6249 | pathogenic | -0.719 | Destabilizing | 0.016 | N | 0.57 | neutral | None | None | None | None | I |
| N/G | 0.4835 | ambiguous | 0.3865 | ambiguous | -0.836 | Destabilizing | 0.007 | N | 0.179 | neutral | None | None | None | None | I |
| N/H | 0.1695 | likely_benign | 0.1406 | benign | -0.742 | Destabilizing | 0.989 | D | 0.601 | neutral | None | None | None | None | I |
| N/I | 0.3473 | ambiguous | 0.2763 | benign | -0.058 | Destabilizing | 0.876 | D | 0.721 | prob.delet. | None | None | None | None | I |
| N/K | 0.5605 | ambiguous | 0.4429 | ambiguous | -0.104 | Destabilizing | 0.801 | D | 0.529 | neutral | None | None | None | None | I |
| N/L | 0.3957 | ambiguous | 0.3113 | benign | -0.058 | Destabilizing | 0.728 | D | 0.672 | neutral | None | None | None | None | I |
| N/M | 0.5081 | ambiguous | 0.4236 | ambiguous | 0.38 | Stabilizing | 0.974 | D | 0.678 | prob.neutral | None | None | None | None | I |
| N/P | 0.7992 | likely_pathogenic | 0.6794 | pathogenic | -0.212 | Destabilizing | 0.974 | D | 0.715 | prob.delet. | None | None | None | None | I |
| N/Q | 0.5624 | ambiguous | 0.4714 | ambiguous | -0.67 | Destabilizing | 0.974 | D | 0.589 | neutral | None | None | None | None | I |
| N/R | 0.5983 | likely_pathogenic | 0.4711 | ambiguous | -0.032 | Destabilizing | 0.949 | D | 0.587 | neutral | None | None | None | None | I |
| N/S | 0.0753 | likely_benign | 0.0705 | benign | -0.487 | Destabilizing | 0.007 | N | 0.182 | neutral | None | None | None | None | I |
| N/T | 0.1451 | likely_benign | 0.1269 | benign | -0.325 | Destabilizing | 0.454 | N | 0.508 | neutral | None | None | None | None | I |
| N/V | 0.3383 | likely_benign | 0.2721 | benign | -0.212 | Destabilizing | 0.842 | D | 0.706 | prob.neutral | None | None | None | None | I |
| N/W | 0.9217 | likely_pathogenic | 0.8623 | pathogenic | -0.567 | Destabilizing | 0.998 | D | 0.704 | prob.neutral | None | None | None | None | I |
| N/Y | 0.322 | likely_benign | 0.2447 | benign | -0.36 | Destabilizing | 0.876 | D | 0.711 | prob.delet. | None | None | None | None | I |
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.