Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28051 | 84376;84377;84378 | chr2:178561981;178561980;178561979 | chr2:179426708;179426707;179426706 |
| N2AB | 26410 | 79453;79454;79455 | chr2:178561981;178561980;178561979 | chr2:179426708;179426707;179426706 |
| N2A | 25483 | 76672;76673;76674 | chr2:178561981;178561980;178561979 | chr2:179426708;179426707;179426706 |
| N2B | 18986 | 57181;57182;57183 | chr2:178561981;178561980;178561979 | chr2:179426708;179426707;179426706 |
| Novex-1 | 19111 | 57556;57557;57558 | chr2:178561981;178561980;178561979 | chr2:179426708;179426707;179426706 |
| Novex-2 | 19178 | 57757;57758;57759 | chr2:178561981;178561980;178561979 | chr2:179426708;179426707;179426706 |
| 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/T | rs748178006  |
-0.799 | 0.549 | N | 0.313 | 0.243 | 0.754759076288 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| I/T | rs748178006 |
-0.799 | 0.549 | N | 0.313 | 0.243 | 0.754759076288 | gnomAD-4.0.0 | 6.15983E-06 | None | None | None | None | N | None | 2.98954E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19708E-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 | 0.331 | likely_benign | 0.3806 | ambiguous | -1.481 | Destabilizing | 0.25 | N | 0.316 | neutral | None | None | None | None | N |
| I/C | 0.7238 | likely_pathogenic | 0.7678 | pathogenic | -0.889 | Destabilizing | 0.977 | D | 0.379 | neutral | None | None | None | None | N |
| I/D | 0.8321 | likely_pathogenic | 0.871 | pathogenic | -0.713 | Destabilizing | 0.739 | D | 0.504 | neutral | None | None | None | None | N |
| I/E | 0.6957 | likely_pathogenic | 0.7406 | pathogenic | -0.709 | Destabilizing | 0.85 | D | 0.495 | neutral | None | None | None | None | N |
| I/F | 0.2394 | likely_benign | 0.2695 | benign | -0.967 | Destabilizing | 0.81 | D | 0.299 | neutral | N | 0.504228338 | None | None | N |
| I/G | 0.7716 | likely_pathogenic | 0.8073 | pathogenic | -1.801 | Destabilizing | 0.447 | N | 0.488 | neutral | None | None | None | None | N |
| I/H | 0.4901 | ambiguous | 0.5569 | ambiguous | -0.946 | Destabilizing | 0.977 | D | 0.525 | neutral | None | None | None | None | N |
| I/K | 0.3973 | ambiguous | 0.4536 | ambiguous | -0.928 | Destabilizing | 0.85 | D | 0.497 | neutral | None | None | None | None | N |
| I/L | 0.155 | likely_benign | 0.1605 | benign | -0.684 | Destabilizing | 0.099 | N | 0.354 | neutral | D | 0.534192908 | None | None | N |
| I/M | 0.1267 | likely_benign | 0.1351 | benign | -0.556 | Destabilizing | 0.81 | D | 0.319 | neutral | N | 0.516002717 | None | None | N |
| I/N | 0.3248 | likely_benign | 0.373 | ambiguous | -0.756 | Destabilizing | 0.009 | N | 0.45 | neutral | N | 0.511758765 | None | None | N |
| I/P | 0.969 | likely_pathogenic | 0.974 | pathogenic | -0.918 | Destabilizing | 0.972 | D | 0.529 | neutral | None | None | None | None | N |
| I/Q | 0.4855 | ambiguous | 0.5383 | ambiguous | -0.922 | Destabilizing | 0.85 | D | 0.538 | neutral | None | None | None | None | N |
| I/R | 0.2806 | likely_benign | 0.3319 | benign | -0.357 | Destabilizing | 0.85 | D | 0.531 | neutral | None | None | None | None | N |
| I/S | 0.3038 | likely_benign | 0.3621 | ambiguous | -1.406 | Destabilizing | 0.379 | N | 0.435 | neutral | N | 0.486969776 | None | None | N |
| I/T | 0.12 | likely_benign | 0.1468 | benign | -1.285 | Destabilizing | 0.549 | D | 0.313 | neutral | N | 0.49422901 | None | None | N |
| I/V | 0.0723 | likely_benign | 0.0749 | benign | -0.918 | Destabilizing | 0.002 | N | 0.208 | neutral | N | 0.49836818 | None | None | N |
| I/W | 0.8759 | likely_pathogenic | 0.883 | pathogenic | -1.022 | Destabilizing | 0.992 | D | 0.64 | neutral | None | None | None | None | N |
| I/Y | 0.6171 | likely_pathogenic | 0.6755 | pathogenic | -0.794 | Destabilizing | 0.92 | D | 0.341 | 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.