Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8944 | 27055;27056;27057 | chr2:178713304;178713303;178713302 | chr2:179578031;179578030;179578029 |
| N2AB | 8627 | 26104;26105;26106 | chr2:178713304;178713303;178713302 | chr2:179578031;179578030;179578029 |
| N2A | 7700 | 23323;23324;23325 | chr2:178713304;178713303;178713302 | chr2:179578031;179578030;179578029 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1577869516  |
None | 0.201 | N | 0.436 | 0.136 | 0.459463830659 | gnomAD-4.0.0 | 1.63684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.82103E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs72648993 |
-0.293 | 0.004 | N | 0.264 | 0.047 | None | gnomAD-2.1.1 | 1.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.18E-05 | 0 |
| V/I | rs72648993 |
-0.293 | 0.004 | N | 0.264 | 0.047 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs72648993 |
-0.293 | 0.004 | N | 0.264 | 0.047 | None | gnomAD-4.0.0 | 1.31569E-05 | None | None | None | None | N | None | 2.67759E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.53817E-05 | 0 | 1.61582E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1354 | likely_benign | 0.1582 | benign | -0.867 | Destabilizing | 0.201 | N | 0.436 | neutral | N | 0.485165944 | None | None | N |
| V/C | 0.6621 | likely_pathogenic | 0.7509 | pathogenic | -0.651 | Destabilizing | 0.992 | D | 0.547 | neutral | None | None | None | None | N |
| V/D | 0.2345 | likely_benign | 0.3302 | benign | -0.776 | Destabilizing | 0.447 | N | 0.519 | neutral | None | None | None | None | N |
| V/E | 0.1895 | likely_benign | 0.2465 | benign | -0.883 | Destabilizing | 0.007 | N | 0.453 | neutral | N | 0.431774176 | None | None | N |
| V/F | 0.1185 | likely_benign | 0.1517 | benign | -0.992 | Destabilizing | 0.85 | D | 0.57 | neutral | None | None | None | None | N |
| V/G | 0.1768 | likely_benign | 0.2391 | benign | -1.042 | Destabilizing | 0.379 | N | 0.511 | neutral | N | 0.479191647 | None | None | N |
| V/H | 0.3559 | ambiguous | 0.4188 | ambiguous | -0.587 | Destabilizing | 0.992 | D | 0.583 | neutral | None | None | None | None | N |
| V/I | 0.0723 | likely_benign | 0.0795 | benign | -0.539 | Destabilizing | 0.004 | N | 0.264 | neutral | N | 0.435006482 | None | None | N |
| V/K | 0.2058 | likely_benign | 0.2429 | benign | -0.776 | Destabilizing | 0.617 | D | 0.509 | neutral | None | None | None | None | N |
| V/L | 0.1193 | likely_benign | 0.1455 | benign | -0.539 | Destabilizing | 0.08 | N | 0.481 | neutral | N | 0.462038368 | None | None | N |
| V/M | 0.1011 | likely_benign | 0.1269 | benign | -0.385 | Destabilizing | 0.85 | D | 0.533 | neutral | None | None | None | None | N |
| V/N | 0.1736 | likely_benign | 0.2353 | benign | -0.449 | Destabilizing | 0.85 | D | 0.581 | neutral | None | None | None | None | N |
| V/P | 0.5973 | likely_pathogenic | 0.7581 | pathogenic | -0.613 | Destabilizing | 0.92 | D | 0.581 | neutral | None | None | None | None | N |
| V/Q | 0.1992 | likely_benign | 0.2293 | benign | -0.741 | Destabilizing | 0.85 | D | 0.582 | neutral | None | None | None | None | N |
| V/R | 0.186 | likely_benign | 0.2086 | benign | -0.153 | Destabilizing | 0.85 | D | 0.582 | neutral | None | None | None | None | N |
| V/S | 0.1364 | likely_benign | 0.1787 | benign | -0.813 | Destabilizing | 0.021 | N | 0.476 | neutral | None | None | None | None | N |
| V/T | 0.1196 | likely_benign | 0.1523 | benign | -0.825 | Destabilizing | 0.447 | N | 0.479 | neutral | None | None | None | None | N |
| V/W | 0.6454 | likely_pathogenic | 0.7438 | pathogenic | -1.065 | Destabilizing | 0.992 | D | 0.623 | neutral | None | None | None | None | N |
| V/Y | 0.3792 | ambiguous | 0.4574 | ambiguous | -0.79 | Destabilizing | 0.92 | D | 0.568 | 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.