Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9673 | 29242;29243;29244 | chr2:178707550;178707549;178707548 | chr2:179572277;179572276;179572275 |
| N2AB | 9356 | 28291;28292;28293 | chr2:178707550;178707549;178707548 | chr2:179572277;179572276;179572275 |
| N2A | 8429 | 25510;25511;25512 | chr2:178707550;178707549;178707548 | chr2:179572277;179572276;179572275 |
| 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 | rs759713900  |
-1.063 | 0.002 | None | 0.295 | 0.1 | 0.107399877778 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 0 | 0 |
| T/A | rs759713900 |
-1.063 | 0.002 | None | 0.295 | 0.1 | 0.107399877778 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| T/A | rs759713900 |
-1.063 | 0.002 | None | 0.295 | 0.1 | 0.107399877778 | gnomAD-4.0.0 | 6.56978E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.40911E-05 | 0 | 0 | 0 | 0 |
| T/N | None | None | 0.012 | None | 0.41 | 0.113 | 0.273938319068 | gnomAD-4.0.0 | 9.5818E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25956E-05 | 0 | 0 |
| T/S | None | None | None | None | 0.13 | 0.147 | 0.128392430309 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 | 0.0711 | likely_benign | 0.0716 | benign | -1.021 | Destabilizing | 0.002 | N | 0.295 | neutral | None | None | None | None | N |
| T/C | 0.1638 | likely_benign | 0.2266 | benign | -0.469 | Destabilizing | None | N | 0.302 | neutral | None | None | None | None | N |
| T/D | 0.7036 | likely_pathogenic | 0.6253 | pathogenic | -1.032 | Destabilizing | 0.016 | N | 0.495 | neutral | None | None | None | None | N |
| T/E | 0.7259 | likely_pathogenic | 0.601 | pathogenic | -0.892 | Destabilizing | 0.016 | N | 0.496 | neutral | None | None | None | None | N |
| T/F | 0.4846 | ambiguous | 0.4766 | ambiguous | -0.576 | Destabilizing | 0.136 | N | 0.654 | neutral | None | None | None | None | N |
| T/G | 0.1897 | likely_benign | 0.2073 | benign | -1.414 | Destabilizing | 0.007 | N | 0.551 | neutral | None | None | None | None | N |
| T/H | 0.5584 | ambiguous | 0.4706 | ambiguous | -1.554 | Destabilizing | 0.356 | N | 0.622 | neutral | None | None | None | None | N |
| T/I | 0.3219 | likely_benign | 0.3211 | benign | -0.005 | Destabilizing | 0.055 | N | 0.53 | neutral | None | None | None | None | N |
| T/K | 0.7561 | likely_pathogenic | 0.5826 | pathogenic | -0.699 | Destabilizing | 0.016 | N | 0.498 | neutral | None | None | None | None | N |
| T/L | 0.2183 | likely_benign | 0.202 | benign | -0.005 | Destabilizing | 0.007 | N | 0.479 | neutral | None | None | None | None | N |
| T/M | 0.1938 | likely_benign | 0.1599 | benign | 0.143 | Stabilizing | 0.628 | D | 0.605 | neutral | None | None | None | None | N |
| T/N | 0.2728 | likely_benign | 0.2407 | benign | -1.07 | Destabilizing | 0.012 | N | 0.41 | neutral | None | None | None | None | N |
| T/P | 0.7461 | likely_pathogenic | 0.641 | pathogenic | -0.312 | Destabilizing | 0.055 | N | 0.563 | neutral | None | None | None | None | N |
| T/Q | 0.6015 | likely_pathogenic | 0.451 | ambiguous | -0.942 | Destabilizing | 0.072 | N | 0.594 | neutral | None | None | None | None | N |
| T/R | 0.6299 | likely_pathogenic | 0.4441 | ambiguous | -0.773 | Destabilizing | 0.072 | N | 0.571 | neutral | None | None | None | None | N |
| T/S | 0.0744 | likely_benign | 0.0797 | benign | -1.308 | Destabilizing | None | N | 0.13 | neutral | None | None | None | None | N |
| T/V | 0.2056 | likely_benign | 0.2003 | benign | -0.312 | Destabilizing | 0.016 | N | 0.407 | neutral | None | None | None | None | N |
| T/W | 0.7696 | likely_pathogenic | 0.7683 | pathogenic | -0.696 | Destabilizing | 0.864 | D | 0.619 | neutral | None | None | None | None | N |
| T/Y | 0.4741 | ambiguous | 0.4712 | ambiguous | -0.392 | Destabilizing | 0.356 | N | 0.663 | 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.