Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16005 | 48238;48239;48240 | chr2:178616876;178616875;178616874 | chr2:179481603;179481602;179481601 |
| N2AB | 14364 | 43315;43316;43317 | chr2:178616876;178616875;178616874 | chr2:179481603;179481602;179481601 |
| N2A | 13437 | 40534;40535;40536 | chr2:178616876;178616875;178616874 | chr2:179481603;179481602;179481601 |
| N2B | 6940 | 21043;21044;21045 | chr2:178616876;178616875;178616874 | chr2:179481603;179481602;179481601 |
| Novex-1 | 7065 | 21418;21419;21420 | chr2:178616876;178616875;178616874 | chr2:179481603;179481602;179481601 |
| Novex-2 | 7132 | 21619;21620;21621 | chr2:178616876;178616875;178616874 | chr2:179481603;179481602;179481601 |
| 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/R | rs557711303  |
0.135 | 0.029 | N | 0.311 | 0.08 | 0.337378238328 | gnomAD-2.1.1 | 4.45E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.17769E-04 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs557711303 |
0.135 | 0.029 | N | 0.311 | 0.08 | 0.337378238328 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94704E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs557711303 |
0.135 | 0.029 | N | 0.311 | 0.08 | 0.337378238328 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| T/R | rs557711303 |
0.135 | 0.029 | N | 0.311 | 0.08 | 0.337378238328 | gnomAD-4.0.0 | 1.17816E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.02793E-04 | None | 0 | 0 | 0 | 0 | 1.6022E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0663 | likely_benign | 0.0687 | benign | -0.173 | Destabilizing | None | N | 0.1 | neutral | N | 0.419101584 | None | None | N |
| T/C | 0.3533 | ambiguous | 0.3781 | ambiguous | -0.286 | Destabilizing | 0.356 | N | 0.329 | neutral | None | None | None | None | N |
| T/D | 0.2095 | likely_benign | 0.2214 | benign | 0.042 | Stabilizing | 0.016 | N | 0.338 | neutral | None | None | None | None | N |
| T/E | 0.1677 | likely_benign | 0.1593 | benign | -0.043 | Destabilizing | None | N | 0.145 | neutral | None | None | None | None | N |
| T/F | 0.2671 | likely_benign | 0.2742 | benign | -0.727 | Destabilizing | 0.356 | N | 0.384 | neutral | None | None | None | None | N |
| T/G | 0.1572 | likely_benign | 0.1691 | benign | -0.275 | Destabilizing | 0.016 | N | 0.273 | neutral | None | None | None | None | N |
| T/H | 0.2139 | likely_benign | 0.2175 | benign | -0.522 | Destabilizing | 0.356 | N | 0.337 | neutral | None | None | None | None | N |
| T/I | 0.16 | likely_benign | 0.1635 | benign | -0.028 | Destabilizing | 0.055 | N | 0.347 | neutral | N | 0.512650861 | None | None | N |
| T/K | 0.127 | likely_benign | 0.1202 | benign | -0.344 | Destabilizing | None | N | 0.19 | neutral | N | 0.500695225 | None | None | N |
| T/L | 0.1039 | likely_benign | 0.1042 | benign | -0.028 | Destabilizing | 0.016 | N | 0.311 | neutral | None | None | None | None | N |
| T/M | 0.1056 | likely_benign | 0.1061 | benign | -0.021 | Destabilizing | 0.356 | N | 0.322 | neutral | None | None | None | None | N |
| T/N | 0.0912 | likely_benign | 0.0956 | benign | -0.114 | Destabilizing | 0.072 | N | 0.145 | neutral | None | None | None | None | N |
| T/P | 0.0726 | likely_benign | 0.075 | benign | -0.049 | Destabilizing | 0.055 | N | 0.322 | neutral | N | 0.495574785 | None | None | N |
| T/Q | 0.1635 | likely_benign | 0.1606 | benign | -0.335 | Destabilizing | 0.038 | N | 0.334 | neutral | None | None | None | None | N |
| T/R | 0.1304 | likely_benign | 0.124 | benign | -0.059 | Destabilizing | 0.029 | N | 0.311 | neutral | N | 0.510789131 | None | None | N |
| T/S | 0.0936 | likely_benign | 0.1007 | benign | -0.273 | Destabilizing | None | N | 0.159 | neutral | N | 0.4361089 | None | None | N |
| T/V | 0.1269 | likely_benign | 0.1299 | benign | -0.049 | Destabilizing | 0.016 | N | 0.185 | neutral | None | None | None | None | N |
| T/W | 0.543 | ambiguous | 0.5405 | ambiguous | -0.791 | Destabilizing | 0.864 | D | 0.332 | neutral | None | None | None | None | N |
| T/Y | 0.2404 | likely_benign | 0.2529 | benign | -0.484 | Destabilizing | 0.356 | N | 0.379 | 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.