Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5790 | 17593;17594;17595 | chr2:178731398;178731397;178731396 | chr2:179596125;179596124;179596123 |
| N2AB | 5473 | 16642;16643;16644 | chr2:178731398;178731397;178731396 | chr2:179596125;179596124;179596123 |
| N2A | 4546 | 13861;13862;13863 | chr2:178731398;178731397;178731396 | chr2:179596125;179596124;179596123 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs777761828  |
-1.163 | None | N | 0.081 | 0.157 | 0.215109475489 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs777761828 |
-0.349 | None | N | 0.227 | 0.252 | 0.243972157842 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| S/R | rs777761828 |
-0.349 | None | N | 0.227 | 0.252 | 0.243972157842 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85812E-06 | 0 | 0 |
| S/T | None | None | None | N | 0.092 | 0.11 | 0.177238962908 | gnomAD-4.0.0 | 6.8419E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99455E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0766 | likely_benign | 0.0733 | benign | -0.682 | Destabilizing | None | N | 0.1 | neutral | None | None | None | None | N |
| S/C | 0.1187 | likely_benign | 0.1111 | benign | -0.468 | Destabilizing | 0.828 | D | 0.379 | neutral | N | 0.488925695 | None | None | N |
| S/D | 0.267 | likely_benign | 0.2548 | benign | -0.533 | Destabilizing | 0.038 | N | 0.211 | neutral | None | None | None | None | N |
| S/E | 0.3424 | ambiguous | 0.305 | benign | -0.572 | Destabilizing | 0.016 | N | 0.211 | neutral | None | None | None | None | N |
| S/F | 0.1883 | likely_benign | 0.1746 | benign | -1.112 | Destabilizing | 0.356 | N | 0.46 | neutral | None | None | None | None | N |
| S/G | 0.0809 | likely_benign | 0.0847 | benign | -0.881 | Destabilizing | None | N | 0.081 | neutral | N | 0.490655561 | None | None | N |
| S/H | 0.2115 | likely_benign | 0.1943 | benign | -1.496 | Destabilizing | 0.214 | N | 0.4 | neutral | None | None | None | None | N |
| S/I | 0.1502 | likely_benign | 0.1446 | benign | -0.27 | Destabilizing | 0.029 | N | 0.447 | neutral | N | 0.506086374 | None | None | N |
| S/K | 0.3406 | ambiguous | 0.3113 | benign | -0.772 | Destabilizing | None | N | 0.133 | neutral | None | None | None | None | N |
| S/L | 0.0968 | likely_benign | 0.0913 | benign | -0.27 | Destabilizing | 0.016 | N | 0.387 | neutral | None | None | None | None | N |
| S/M | 0.1854 | likely_benign | 0.1714 | benign | 0.201 | Stabilizing | 0.356 | N | 0.4 | neutral | None | None | None | None | N |
| S/N | 0.0979 | likely_benign | 0.1001 | benign | -0.692 | Destabilizing | None | N | 0.131 | neutral | N | 0.48978877 | None | None | N |
| S/P | 0.3145 | likely_benign | 0.291 | benign | -0.376 | Destabilizing | 0.136 | N | 0.429 | neutral | None | None | None | None | N |
| S/Q | 0.3163 | likely_benign | 0.2922 | benign | -0.937 | Destabilizing | 0.072 | N | 0.293 | neutral | None | None | None | None | N |
| S/R | 0.2304 | likely_benign | 0.2175 | benign | -0.587 | Destabilizing | None | N | 0.227 | neutral | N | 0.444016408 | None | None | N |
| S/T | 0.0705 | likely_benign | 0.0695 | benign | -0.696 | Destabilizing | None | N | 0.092 | neutral | N | 0.462679526 | None | None | N |
| S/V | 0.1685 | likely_benign | 0.1587 | benign | -0.376 | Destabilizing | 0.001 | N | 0.253 | neutral | None | None | None | None | N |
| S/W | 0.2655 | likely_benign | 0.2461 | benign | -1.092 | Destabilizing | 0.864 | D | 0.473 | neutral | None | None | None | None | N |
| S/Y | 0.1561 | likely_benign | 0.1436 | benign | -0.821 | Destabilizing | 0.356 | N | 0.466 | 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.