Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22461 | 67606;67607;67608 | chr2:178579816;178579815;178579814 | chr2:179444543;179444542;179444541 |
| N2AB | 20820 | 62683;62684;62685 | chr2:178579816;178579815;178579814 | chr2:179444543;179444542;179444541 |
| N2A | 19893 | 59902;59903;59904 | chr2:178579816;178579815;178579814 | chr2:179444543;179444542;179444541 |
| N2B | 13396 | 40411;40412;40413 | chr2:178579816;178579815;178579814 | chr2:179444543;179444542;179444541 |
| Novex-1 | 13521 | 40786;40787;40788 | chr2:178579816;178579815;178579814 | chr2:179444543;179444542;179444541 |
| Novex-2 | 13588 | 40987;40988;40989 | chr2:178579816;178579815;178579814 | chr2:179444543;179444542;179444541 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | 0.001 | N | 0.167 | 0.094 | 0.0297737177859 | gnomAD-4.0.0 | 3.18459E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72053E-06 | 0 | 0 |
| R/W | None | None | 0.258 | N | 0.301 | 0.057 | 0.104622674875 | gnomAD-4.0.0 | 3.1846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86028E-06 | 0 | 3.02627E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1384 | likely_benign | 0.1186 | benign | -0.319 | Destabilizing | None | N | 0.125 | neutral | None | None | None | None | N |
| R/C | 0.0932 | likely_benign | 0.0848 | benign | -0.343 | Destabilizing | 0.132 | N | 0.345 | neutral | None | None | None | None | N |
| R/D | 0.3144 | likely_benign | 0.2635 | benign | -0.03 | Destabilizing | 0.004 | N | 0.306 | neutral | None | None | None | None | N |
| R/E | 0.1973 | likely_benign | 0.1674 | benign | 0.036 | Stabilizing | 0.001 | N | 0.174 | neutral | None | None | None | None | N |
| R/F | 0.2094 | likely_benign | 0.1747 | benign | -0.505 | Destabilizing | 0.004 | N | 0.372 | neutral | None | None | None | None | N |
| R/G | 0.123 | likely_benign | 0.109 | benign | -0.532 | Destabilizing | 0.001 | N | 0.27 | neutral | N | 0.433652193 | None | None | N |
| R/H | 0.0746 | likely_benign | 0.0698 | benign | -0.918 | Destabilizing | 0.132 | N | 0.295 | neutral | None | None | None | None | N |
| R/I | 0.0826 | likely_benign | 0.0741 | benign | 0.216 | Stabilizing | None | N | 0.186 | neutral | None | None | None | None | N |
| R/K | 0.0852 | likely_benign | 0.0752 | benign | -0.324 | Destabilizing | 0.001 | N | 0.167 | neutral | N | 0.365656332 | None | None | N |
| R/L | 0.0791 | likely_benign | 0.0703 | benign | 0.216 | Stabilizing | None | N | 0.126 | neutral | None | None | None | None | N |
| R/M | 0.1009 | likely_benign | 0.0853 | benign | -0.057 | Destabilizing | None | N | 0.163 | neutral | N | 0.409679255 | None | None | N |
| R/N | 0.2097 | likely_benign | 0.1673 | benign | 0.089 | Stabilizing | 0.009 | N | 0.202 | neutral | None | None | None | None | N |
| R/P | 0.4693 | ambiguous | 0.4071 | ambiguous | 0.058 | Stabilizing | None | N | 0.157 | neutral | None | None | None | None | N |
| R/Q | 0.071 | likely_benign | 0.0683 | benign | -0.115 | Destabilizing | None | N | 0.093 | neutral | None | None | None | None | N |
| R/S | 0.1642 | likely_benign | 0.1368 | benign | -0.459 | Destabilizing | None | N | 0.154 | neutral | N | 0.370944722 | None | None | N |
| R/T | 0.0716 | likely_benign | 0.0656 | benign | -0.251 | Destabilizing | None | N | 0.154 | neutral | N | 0.370195361 | None | None | N |
| R/V | 0.1063 | likely_benign | 0.0963 | benign | 0.058 | Stabilizing | None | N | 0.25 | neutral | None | None | None | None | N |
| R/W | 0.1079 | likely_benign | 0.0986 | benign | -0.413 | Destabilizing | 0.258 | N | 0.301 | neutral | N | 0.474402738 | None | None | N |
| R/Y | 0.1707 | likely_benign | 0.1467 | benign | -0.035 | Destabilizing | 0.041 | N | 0.411 | 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.