Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8302 | 25129;25130;25131 | chr2:178718102;178718101;178718100 | chr2:179582829;179582828;179582827 |
| N2AB | 7985 | 24178;24179;24180 | chr2:178718102;178718101;178718100 | chr2:179582829;179582828;179582827 |
| N2A | 7058 | 21397;21398;21399 | chr2:178718102;178718101;178718100 | chr2:179582829;179582828;179582827 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.005 | N | 0.216 | 0.145 | 0.141422826196 | gnomAD-4.0.0 | 6.84604E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-05 | 0 |
| T/K | rs549604128  |
-0.452 | 0.011 | N | 0.245 | 0.275 | 0.272205846399 | gnomAD-2.1.1 | 8.94E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.1784E-03 | None | 6.54E-05 | None | 0 | 0 | 0 |
| T/K | rs549604128 |
-0.452 | 0.011 | N | 0.245 | 0.275 | 0.272205846399 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.54321E-03 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs549604128 |
-0.452 | 0.011 | N | 0.245 | 0.275 | 0.272205846399 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| T/K | rs549604128 |
-0.452 | 0.011 | N | 0.245 | 0.275 | 0.272205846399 | gnomAD-4.0.0 | 2.23197E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.24108E-04 | None | 0 | 1.65125E-04 | 0 | 6.58848E-05 | 1.60092E-05 |
| T/S | None | None | None | N | 0.148 | 0.064 | 0.12205267543 | gnomAD-4.0.0 | 6.84604E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1054 | likely_benign | 0.1393 | benign | -0.515 | Destabilizing | 0.005 | N | 0.216 | neutral | N | 0.456636201 | None | None | N |
| T/C | 0.5887 | likely_pathogenic | 0.6695 | pathogenic | -0.406 | Destabilizing | 0.985 | D | 0.34 | neutral | None | None | None | None | N |
| T/D | 0.5329 | ambiguous | 0.6478 | pathogenic | 0.388 | Stabilizing | 0.104 | N | 0.317 | neutral | None | None | None | None | N |
| T/E | 0.3516 | ambiguous | 0.4732 | ambiguous | 0.388 | Stabilizing | 0.137 | N | 0.337 | neutral | None | None | None | None | N |
| T/F | 0.4257 | ambiguous | 0.5551 | ambiguous | -0.756 | Destabilizing | 0.953 | D | 0.396 | neutral | None | None | None | None | N |
| T/G | 0.3175 | likely_benign | 0.3968 | ambiguous | -0.731 | Destabilizing | 0.003 | N | 0.211 | neutral | None | None | None | None | N |
| T/H | 0.3261 | likely_benign | 0.4221 | ambiguous | -0.865 | Destabilizing | 0.885 | D | 0.392 | neutral | None | None | None | None | N |
| T/I | 0.2484 | likely_benign | 0.3828 | ambiguous | -0.042 | Destabilizing | 0.853 | D | 0.381 | neutral | N | 0.457849709 | None | None | N |
| T/K | 0.2482 | likely_benign | 0.3521 | ambiguous | -0.347 | Destabilizing | 0.011 | N | 0.245 | neutral | N | 0.41403743 | None | None | N |
| T/L | 0.1655 | likely_benign | 0.2412 | benign | -0.042 | Destabilizing | 0.519 | D | 0.311 | neutral | None | None | None | None | N |
| T/M | 0.1321 | likely_benign | 0.1754 | benign | -0.127 | Destabilizing | 0.959 | D | 0.333 | neutral | None | None | None | None | N |
| T/N | 0.1753 | likely_benign | 0.2394 | benign | -0.381 | Destabilizing | 0.003 | N | 0.196 | neutral | None | None | None | None | N |
| T/P | 0.5469 | ambiguous | 0.6851 | pathogenic | -0.168 | Destabilizing | 0.261 | N | 0.394 | neutral | D | 0.535598417 | None | None | N |
| T/Q | 0.2158 | likely_benign | 0.2887 | benign | -0.433 | Destabilizing | 0.019 | N | 0.245 | neutral | None | None | None | None | N |
| T/R | 0.1959 | likely_benign | 0.2853 | benign | -0.167 | Destabilizing | 0.521 | D | 0.331 | neutral | N | 0.429508315 | None | None | N |
| T/S | 0.144 | likely_benign | 0.1769 | benign | -0.654 | Destabilizing | None | N | 0.148 | neutral | N | 0.45276639 | None | None | N |
| T/V | 0.182 | likely_benign | 0.2571 | benign | -0.168 | Destabilizing | 0.435 | N | 0.207 | neutral | None | None | None | None | N |
| T/W | 0.6958 | likely_pathogenic | 0.7995 | pathogenic | -0.787 | Destabilizing | 0.996 | D | 0.414 | neutral | None | None | None | None | N |
| T/Y | 0.406 | ambiguous | 0.5214 | ambiguous | -0.488 | Destabilizing | 0.984 | D | 0.397 | 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.