Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17379 | 52360;52361;52362 | chr2:178608876;178608875;178608874 | chr2:179473603;179473602;179473601 |
| N2AB | 15738 | 47437;47438;47439 | chr2:178608876;178608875;178608874 | chr2:179473603;179473602;179473601 |
| N2A | 14811 | 44656;44657;44658 | chr2:178608876;178608875;178608874 | chr2:179473603;179473602;179473601 |
| N2B | 8314 | 25165;25166;25167 | chr2:178608876;178608875;178608874 | chr2:179473603;179473602;179473601 |
| Novex-1 | 8439 | 25540;25541;25542 | chr2:178608876;178608875;178608874 | chr2:179473603;179473602;179473601 |
| Novex-2 | 8506 | 25741;25742;25743 | chr2:178608876;178608875;178608874 | chr2:179473603;179473602;179473601 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs1323809346  |
-1.062 | 0.939 | N | 0.604 | 0.467 | 0.404034981753 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.71E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs1323809346 |
-1.062 | 0.939 | N | 0.604 | 0.467 | 0.404034981753 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs1323809346 |
-1.062 | 0.939 | N | 0.604 | 0.467 | 0.404034981753 | gnomAD-4.0.0 | 3.8559E-06 | None | None | None | None | N | None | 0 | 5.09096E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs770795675 |
-0.275 | 0.991 | N | 0.561 | 0.274 | 0.256283259241 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| E/Q | rs770795675 |
-0.275 | 0.991 | N | 0.561 | 0.274 | 0.256283259241 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs770795675 |
-0.275 | 0.991 | N | 0.561 | 0.274 | 0.256283259241 | gnomAD-4.0.0 | 1.67598E-05 | None | None | None | None | N | None | 2.67451E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.12019E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3222 | likely_benign | 0.2762 | benign | -0.528 | Destabilizing | 0.939 | D | 0.607 | neutral | N | 0.511227542 | None | None | N |
| E/C | 0.8949 | likely_pathogenic | 0.8757 | pathogenic | -0.35 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| E/D | 0.1893 | likely_benign | 0.1548 | benign | -0.79 | Destabilizing | 0.02 | N | 0.14 | neutral | N | 0.454758184 | None | None | N |
| E/F | 0.9265 | likely_pathogenic | 0.897 | pathogenic | 0.029 | Stabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| E/G | 0.3396 | likely_benign | 0.2773 | benign | -0.846 | Destabilizing | 0.939 | D | 0.604 | neutral | N | 0.493508573 | None | None | N |
| E/H | 0.6276 | likely_pathogenic | 0.5592 | ambiguous | 0.015 | Stabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| E/I | 0.6457 | likely_pathogenic | 0.5748 | pathogenic | 0.319 | Stabilizing | 0.993 | D | 0.761 | deleterious | None | None | None | None | N |
| E/K | 0.3269 | likely_benign | 0.2738 | benign | -0.208 | Destabilizing | 0.939 | D | 0.503 | neutral | N | 0.486753172 | None | None | N |
| E/L | 0.671 | likely_pathogenic | 0.5958 | pathogenic | 0.319 | Stabilizing | 0.993 | D | 0.75 | deleterious | None | None | None | None | N |
| E/M | 0.6824 | likely_pathogenic | 0.6265 | pathogenic | 0.458 | Stabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | N |
| E/N | 0.4621 | ambiguous | 0.3808 | ambiguous | -0.737 | Destabilizing | 0.973 | D | 0.584 | neutral | None | None | None | None | N |
| E/P | 0.9646 | likely_pathogenic | 0.9451 | pathogenic | 0.059 | Stabilizing | 0.993 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/Q | 0.2114 | likely_benign | 0.1856 | benign | -0.612 | Destabilizing | 0.991 | D | 0.561 | neutral | N | 0.507803235 | None | None | N |
| E/R | 0.4912 | ambiguous | 0.4261 | ambiguous | 0.136 | Stabilizing | 0.993 | D | 0.619 | neutral | None | None | None | None | N |
| E/S | 0.2884 | likely_benign | 0.2485 | benign | -0.943 | Destabilizing | 0.953 | D | 0.516 | neutral | None | None | None | None | N |
| E/T | 0.309 | likely_benign | 0.2749 | benign | -0.68 | Destabilizing | 0.993 | D | 0.663 | neutral | None | None | None | None | N |
| E/V | 0.4253 | ambiguous | 0.366 | ambiguous | 0.059 | Stabilizing | 0.991 | D | 0.718 | prob.delet. | N | 0.474690739 | None | None | N |
| E/W | 0.949 | likely_pathogenic | 0.9332 | pathogenic | 0.272 | Stabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| E/Y | 0.8356 | likely_pathogenic | 0.7857 | pathogenic | 0.281 | Stabilizing | 0.999 | D | 0.722 | prob.delet. | 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.