Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30680 | 92263;92264;92265 | chr2:178549684;178549683;178549682 | chr2:179414411;179414410;179414409 |
| N2AB | 29039 | 87340;87341;87342 | chr2:178549684;178549683;178549682 | chr2:179414411;179414410;179414409 |
| N2A | 28112 | 84559;84560;84561 | chr2:178549684;178549683;178549682 | chr2:179414411;179414410;179414409 |
| N2B | 21615 | 65068;65069;65070 | chr2:178549684;178549683;178549682 | chr2:179414411;179414410;179414409 |
| Novex-1 | 21740 | 65443;65444;65445 | chr2:178549684;178549683;178549682 | chr2:179414411;179414410;179414409 |
| Novex-2 | 21807 | 65644;65645;65646 | chr2:178549684;178549683;178549682 | chr2:179414411;179414410;179414409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.966 | N | 0.516 | 0.346 | 0.347879110917 | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85845E-06 | 0 | 0 |
| T/N | rs2154148406  |
None | 0.005 | N | 0.2 | 0.099 | 0.194818534648 | gnomAD-4.0.0 | 3.18262E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54754E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs1206813558 |
-0.497 | 0.989 | N | 0.517 | 0.482 | 0.377451072189 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/P | rs1206813558 |
-0.497 | 0.989 | N | 0.517 | 0.482 | 0.377451072189 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0971 | likely_benign | 0.1082 | benign | -0.727 | Destabilizing | 0.625 | D | 0.467 | neutral | D | 0.527143931 | None | None | N |
| T/C | 0.3437 | ambiguous | 0.3802 | ambiguous | -0.465 | Destabilizing | 0.998 | D | 0.502 | neutral | None | None | None | None | N |
| T/D | 0.4854 | ambiguous | 0.61 | pathogenic | 0.228 | Stabilizing | 0.728 | D | 0.45 | neutral | None | None | None | None | N |
| T/E | 0.3823 | ambiguous | 0.5071 | ambiguous | 0.239 | Stabilizing | 0.842 | D | 0.449 | neutral | None | None | None | None | N |
| T/F | 0.3115 | likely_benign | 0.3945 | ambiguous | -0.826 | Destabilizing | 0.991 | D | 0.552 | neutral | None | None | None | None | N |
| T/G | 0.3481 | ambiguous | 0.3794 | ambiguous | -0.981 | Destabilizing | 0.728 | D | 0.487 | neutral | None | None | None | None | N |
| T/H | 0.2342 | likely_benign | 0.2852 | benign | -1.164 | Destabilizing | 0.974 | D | 0.553 | neutral | None | None | None | None | N |
| T/I | 0.169 | likely_benign | 0.2045 | benign | -0.147 | Destabilizing | 0.966 | D | 0.516 | neutral | N | 0.479022696 | None | None | N |
| T/K | 0.2363 | likely_benign | 0.3005 | benign | -0.512 | Destabilizing | 0.728 | D | 0.463 | neutral | None | None | None | None | N |
| T/L | 0.1261 | likely_benign | 0.147 | benign | -0.147 | Destabilizing | 0.915 | D | 0.437 | neutral | None | None | None | None | N |
| T/M | 0.0964 | likely_benign | 0.1093 | benign | -0.059 | Destabilizing | 0.998 | D | 0.494 | neutral | None | None | None | None | N |
| T/N | 0.1292 | likely_benign | 0.1523 | benign | -0.509 | Destabilizing | 0.005 | N | 0.2 | neutral | N | 0.489356334 | None | None | N |
| T/P | 0.1854 | likely_benign | 0.2128 | benign | -0.308 | Destabilizing | 0.989 | D | 0.517 | neutral | N | 0.475935277 | None | None | N |
| T/Q | 0.2323 | likely_benign | 0.2726 | benign | -0.594 | Destabilizing | 0.949 | D | 0.513 | neutral | None | None | None | None | N |
| T/R | 0.187 | likely_benign | 0.2526 | benign | -0.337 | Destabilizing | 0.016 | N | 0.302 | neutral | None | None | None | None | N |
| T/S | 0.1196 | likely_benign | 0.1321 | benign | -0.828 | Destabilizing | 0.454 | N | 0.47 | neutral | N | 0.511982478 | None | None | N |
| T/V | 0.121 | likely_benign | 0.1408 | benign | -0.308 | Destabilizing | 0.915 | D | 0.441 | neutral | None | None | None | None | N |
| T/W | 0.6483 | likely_pathogenic | 0.7287 | pathogenic | -0.784 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| T/Y | 0.3064 | likely_benign | 0.3672 | ambiguous | -0.526 | Destabilizing | 0.991 | D | 0.557 | 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.