Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3086 | 9481;9482;9483 | chr2:178768063;178768062;178768061 | chr2:179632790;179632789;179632788 |
| N2AB | 3086 | 9481;9482;9483 | chr2:178768063;178768062;178768061 | chr2:179632790;179632789;179632788 |
| N2A | 3086 | 9481;9482;9483 | chr2:178768063;178768062;178768061 | chr2:179632790;179632789;179632788 |
| N2B | 3040 | 9343;9344;9345 | chr2:178768063;178768062;178768061 | chr2:179632790;179632789;179632788 |
| Novex-1 | 3040 | 9343;9344;9345 | chr2:178768063;178768062;178768061 | chr2:179632790;179632789;179632788 |
| Novex-2 | 3040 | 9343;9344;9345 | chr2:178768063;178768062;178768061 | chr2:179632790;179632789;179632788 |
| Novex-3 | 3086 | 9481;9482;9483 | chr2:178768063;178768062;178768061 | chr2:179632790;179632789;179632788 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs2090827474  |
None | 0.005 | N | 0.141 | 0.219 | 0.247872288689 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs2090827474 |
None | 0.005 | N | 0.141 | 0.219 | 0.247872288689 | gnomAD-4.0.0 | 6.56918E-06 | None | None | None | None | N | None | 2.4122E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs2090827474 |
None | 0.005 | N | 0.123 | 0.146 | 0.316198179892 | gnomAD-4.0.0 | 1.59055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.803 | likely_pathogenic | 0.7917 | pathogenic | -1.855 | Destabilizing | 0.525 | D | 0.436 | neutral | None | None | None | None | N |
| I/C | 0.9293 | likely_pathogenic | 0.9356 | pathogenic | -0.901 | Destabilizing | 0.998 | D | 0.552 | neutral | None | None | None | None | N |
| I/D | 0.9835 | likely_pathogenic | 0.9791 | pathogenic | -1.506 | Destabilizing | 0.974 | D | 0.615 | neutral | None | None | None | None | N |
| I/E | 0.9646 | likely_pathogenic | 0.9552 | pathogenic | -1.493 | Destabilizing | 0.974 | D | 0.619 | neutral | None | None | None | None | N |
| I/F | 0.602 | likely_pathogenic | 0.5736 | pathogenic | -1.338 | Destabilizing | 0.934 | D | 0.543 | neutral | N | 0.50917363 | None | None | N |
| I/G | 0.9638 | likely_pathogenic | 0.9602 | pathogenic | -2.199 | Highly Destabilizing | 0.974 | D | 0.611 | neutral | None | None | None | None | N |
| I/H | 0.9589 | likely_pathogenic | 0.9509 | pathogenic | -1.486 | Destabilizing | 0.998 | D | 0.592 | neutral | None | None | None | None | N |
| I/K | 0.9352 | likely_pathogenic | 0.9112 | pathogenic | -1.314 | Destabilizing | 0.974 | D | 0.616 | neutral | None | None | None | None | N |
| I/L | 0.3797 | ambiguous | 0.3566 | ambiguous | -0.963 | Destabilizing | 0.005 | N | 0.141 | neutral | N | 0.466613762 | None | None | N |
| I/M | 0.3064 | likely_benign | 0.2897 | benign | -0.626 | Destabilizing | 0.934 | D | 0.535 | neutral | N | 0.51121623 | None | None | N |
| I/N | 0.8571 | likely_pathogenic | 0.8228 | pathogenic | -1.033 | Destabilizing | 0.966 | D | 0.625 | neutral | D | 0.566677304 | None | None | N |
| I/P | 0.9846 | likely_pathogenic | 0.9783 | pathogenic | -1.231 | Destabilizing | 0.991 | D | 0.625 | neutral | None | None | None | None | N |
| I/Q | 0.9406 | likely_pathogenic | 0.9263 | pathogenic | -1.21 | Destabilizing | 0.991 | D | 0.63 | neutral | None | None | None | None | N |
| I/R | 0.8962 | likely_pathogenic | 0.8704 | pathogenic | -0.709 | Destabilizing | 0.974 | D | 0.627 | neutral | None | None | None | None | N |
| I/S | 0.8258 | likely_pathogenic | 0.7962 | pathogenic | -1.593 | Destabilizing | 0.669 | D | 0.523 | neutral | N | 0.498563256 | None | None | N |
| I/T | 0.7015 | likely_pathogenic | 0.6802 | pathogenic | -1.466 | Destabilizing | 0.051 | N | 0.289 | neutral | N | 0.507580693 | None | None | N |
| I/V | 0.1261 | likely_benign | 0.1196 | benign | -1.231 | Destabilizing | 0.005 | N | 0.123 | neutral | N | 0.399444501 | None | None | N |
| I/W | 0.9824 | likely_pathogenic | 0.9819 | pathogenic | -1.447 | Destabilizing | 0.998 | D | 0.631 | neutral | None | None | None | None | N |
| I/Y | 0.9309 | likely_pathogenic | 0.9239 | pathogenic | -1.249 | Destabilizing | 0.974 | D | 0.595 | neutral | 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.