Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2364 | 7315;7316;7317 | chr2:178774078;178774077;178774076 | chr2:179638805;179638804;179638803 |
| N2AB | 2364 | 7315;7316;7317 | chr2:178774078;178774077;178774076 | chr2:179638805;179638804;179638803 |
| N2A | 2364 | 7315;7316;7317 | chr2:178774078;178774077;178774076 | chr2:179638805;179638804;179638803 |
| N2B | 2318 | 7177;7178;7179 | chr2:178774078;178774077;178774076 | chr2:179638805;179638804;179638803 |
| Novex-1 | 2318 | 7177;7178;7179 | chr2:178774078;178774077;178774076 | chr2:179638805;179638804;179638803 |
| Novex-2 | 2318 | 7177;7178;7179 | chr2:178774078;178774077;178774076 | chr2:179638805;179638804;179638803 |
| Novex-3 | 2364 | 7315;7316;7317 | chr2:178774078;178774077;178774076 | chr2:179638805;179638804;179638803 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs1429499866  |
-0.043 | 1.0 | D | 0.684 | 0.725 | 0.654805944736 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| D/H | rs1429499866 |
-0.043 | 1.0 | D | 0.684 | 0.725 | 0.654805944736 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/H | rs1429499866 |
-0.043 | 1.0 | D | 0.684 | 0.725 | 0.654805944736 | gnomAD-4.0.0 | 6.57402E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47042E-05 | 0 | 0 |
| D/N | None | None | 1.0 | D | 0.613 | 0.585 | 0.57186346447 | gnomAD-4.0.0 | 1.59076E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5295 | ambiguous | 0.5602 | ambiguous | 0.115 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.630620179 | None | None | N |
| D/C | 0.9063 | likely_pathogenic | 0.9118 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/E | 0.3897 | ambiguous | 0.4277 | ambiguous | -0.356 | Destabilizing | 1.0 | D | 0.41 | neutral | D | 0.670450455 | None | None | N |
| D/F | 0.9311 | likely_pathogenic | 0.9381 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/G | 0.4727 | ambiguous | 0.5003 | ambiguous | 0.038 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.652521071 | None | None | N |
| D/H | 0.6682 | likely_pathogenic | 0.6983 | pathogenic | 0.45 | Stabilizing | 1.0 | D | 0.684 | prob.neutral | D | 0.690153603 | None | None | N |
| D/I | 0.8444 | likely_pathogenic | 0.8635 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/K | 0.8477 | likely_pathogenic | 0.8705 | pathogenic | 0.497 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/L | 0.8294 | likely_pathogenic | 0.8493 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| D/M | 0.923 | likely_pathogenic | 0.9349 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/N | 0.1332 | likely_benign | 0.1413 | benign | 0.389 | Stabilizing | 1.0 | D | 0.613 | neutral | D | 0.58227298 | None | None | N |
| D/P | 0.7902 | likely_pathogenic | 0.8122 | pathogenic | 0.219 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/Q | 0.7621 | likely_pathogenic | 0.7981 | pathogenic | 0.358 | Stabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| D/R | 0.8644 | likely_pathogenic | 0.8848 | pathogenic | 0.621 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/S | 0.251 | likely_benign | 0.2756 | benign | 0.286 | Stabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| D/T | 0.589 | likely_pathogenic | 0.6149 | pathogenic | 0.35 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| D/V | 0.7034 | likely_pathogenic | 0.7321 | pathogenic | 0.219 | Stabilizing | 1.0 | D | 0.758 | deleterious | D | 0.639323516 | None | None | N |
| D/W | 0.9844 | likely_pathogenic | 0.9859 | pathogenic | -0.112 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| D/Y | 0.7078 | likely_pathogenic | 0.7217 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.690236708 | 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.