Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4877 | 14854;14855;14856 | chr2:178735817;178735816;178735815 | chr2:179600544;179600543;179600542 |
| N2AB | 4560 | 13903;13904;13905 | chr2:178735817;178735816;178735815 | chr2:179600544;179600543;179600542 |
| N2A | 3633 | 11122;11123;11124 | chr2:178735817;178735816;178735815 | chr2:179600544;179600543;179600542 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs375193984  |
-0.816 | 0.002 | N | 0.291 | 0.099 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| I/L | rs375193984 |
-0.816 | 0.002 | N | 0.291 | 0.099 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/L | rs375193984 |
-0.816 | 0.002 | N | 0.291 | 0.099 | None | gnomAD-4.0.0 | 3.84345E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17865E-06 | 0 | 0 |
| I/N | rs757451049 |
-0.726 | 0.029 | N | 0.523 | 0.05 | 0.621404061958 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| I/N | rs757451049 |
-0.726 | 0.029 | N | 0.523 | 0.05 | 0.621404061958 | gnomAD-4.0.0 | 1.59148E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85824E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2412 | likely_benign | 0.1528 | benign | -1.4 | Destabilizing | 0.007 | N | 0.308 | neutral | None | None | None | None | I |
| I/C | 0.6147 | likely_pathogenic | 0.4643 | ambiguous | -0.691 | Destabilizing | 0.356 | N | 0.48 | neutral | None | None | None | None | I |
| I/D | 0.5108 | ambiguous | 0.348 | ambiguous | -0.748 | Destabilizing | 0.038 | N | 0.483 | neutral | None | None | None | None | I |
| I/E | 0.44 | ambiguous | 0.321 | benign | -0.784 | Destabilizing | 0.001 | N | 0.413 | neutral | None | None | None | None | I |
| I/F | 0.1457 | likely_benign | 0.1081 | benign | -1.066 | Destabilizing | 0.171 | N | 0.465 | neutral | N | 0.463553586 | None | None | I |
| I/G | 0.5256 | ambiguous | 0.3609 | ambiguous | -1.677 | Destabilizing | 0.038 | N | 0.489 | neutral | None | None | None | None | I |
| I/H | 0.3893 | ambiguous | 0.2699 | benign | -0.838 | Destabilizing | 0.356 | N | 0.515 | neutral | None | None | None | None | I |
| I/K | 0.3485 | ambiguous | 0.2556 | benign | -0.834 | Destabilizing | 0.038 | N | 0.486 | neutral | None | None | None | None | I |
| I/L | 0.1161 | likely_benign | 0.098 | benign | -0.736 | Destabilizing | 0.002 | N | 0.291 | neutral | N | 0.450821427 | None | None | I |
| I/M | 0.1024 | likely_benign | 0.0876 | benign | -0.498 | Destabilizing | 0.005 | N | 0.288 | neutral | N | 0.485866674 | None | None | I |
| I/N | 0.1632 | likely_benign | 0.1137 | benign | -0.562 | Destabilizing | 0.029 | N | 0.523 | neutral | N | 0.459204944 | None | None | I |
| I/P | 0.847 | likely_pathogenic | 0.7368 | pathogenic | -0.925 | Destabilizing | 0.072 | N | 0.57 | neutral | None | None | None | None | I |
| I/Q | 0.3894 | ambiguous | 0.2782 | benign | -0.786 | Destabilizing | 0.072 | N | 0.59 | neutral | None | None | None | None | I |
| I/R | 0.2566 | likely_benign | 0.1871 | benign | -0.195 | Destabilizing | 0.072 | N | 0.571 | neutral | None | None | None | None | I |
| I/S | 0.1529 | likely_benign | 0.1037 | benign | -1.134 | Destabilizing | None | N | 0.38 | neutral | N | 0.33025904 | None | None | I |
| I/T | 0.1142 | likely_benign | 0.0781 | benign | -1.057 | Destabilizing | None | N | 0.251 | neutral | N | 0.361178016 | None | None | I |
| I/V | 0.0875 | likely_benign | 0.0744 | benign | -0.925 | Destabilizing | None | N | 0.202 | neutral | N | 0.444503174 | None | None | I |
| I/W | 0.737 | likely_pathogenic | 0.6125 | pathogenic | -1.093 | Destabilizing | 0.864 | D | 0.543 | neutral | None | None | None | None | I |
| I/Y | 0.3951 | ambiguous | 0.2926 | benign | -0.879 | Destabilizing | 0.356 | N | 0.543 | neutral | None | None | None | None | I |
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.