Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28642 | 86149;86150;86151 | chr2:178560208;178560207;178560206 | chr2:179424935;179424934;179424933 |
| N2AB | 27001 | 81226;81227;81228 | chr2:178560208;178560207;178560206 | chr2:179424935;179424934;179424933 |
| N2A | 26074 | 78445;78446;78447 | chr2:178560208;178560207;178560206 | chr2:179424935;179424934;179424933 |
| N2B | 19577 | 58954;58955;58956 | chr2:178560208;178560207;178560206 | chr2:179424935;179424934;179424933 |
| Novex-1 | 19702 | 59329;59330;59331 | chr2:178560208;178560207;178560206 | chr2:179424935;179424934;179424933 |
| Novex-2 | 19769 | 59530;59531;59532 | chr2:178560208;178560207;178560206 | chr2:179424935;179424934;179424933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 0.999 | N | 0.793 | 0.141 | 0.408307896497 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99462E-07 | 0 | 0 |
| L/S | None | None | 1.0 | N | 0.879 | 0.326 | 0.778178206519 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1786 | likely_benign | 0.1771 | benign | -1.276 | Destabilizing | 0.997 | D | 0.761 | deleterious | None | None | None | None | N |
| L/C | 0.3573 | ambiguous | 0.3482 | ambiguous | -0.743 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| L/D | 0.6722 | likely_pathogenic | 0.6448 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| L/E | 0.387 | ambiguous | 0.3625 | ambiguous | -0.746 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| L/F | 0.116 | likely_benign | 0.105 | benign | -0.954 | Destabilizing | 0.999 | D | 0.793 | deleterious | N | 0.432857185 | None | None | N |
| L/G | 0.3979 | ambiguous | 0.3856 | ambiguous | -1.534 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| L/H | 0.2228 | likely_benign | 0.2061 | benign | -0.713 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| L/I | 0.106 | likely_benign | 0.0973 | benign | -0.675 | Destabilizing | 0.779 | D | 0.355 | neutral | N | 0.492905567 | None | None | N |
| L/K | 0.3028 | likely_benign | 0.2837 | benign | -0.841 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| L/M | 0.1132 | likely_benign | 0.1118 | benign | -0.526 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| L/N | 0.3353 | likely_benign | 0.3255 | benign | -0.577 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/P | 0.1365 | likely_benign | 0.1319 | benign | -0.843 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| L/Q | 0.1593 | likely_benign | 0.1536 | benign | -0.811 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/R | 0.2322 | likely_benign | 0.2079 | benign | -0.198 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| L/S | 0.2101 | likely_benign | 0.1971 | benign | -1.12 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.473205085 | None | None | N |
| L/T | 0.1959 | likely_benign | 0.1878 | benign | -1.059 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| L/V | 0.0922 | likely_benign | 0.087 | benign | -0.843 | Destabilizing | 0.959 | D | 0.711 | prob.delet. | N | 0.472412864 | None | None | N |
| L/W | 0.2529 | likely_benign | 0.222 | benign | -0.968 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| L/Y | 0.2593 | likely_benign | 0.2412 | benign | -0.762 | Destabilizing | 1.0 | D | 0.878 | deleterious | 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.