Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15675 | 47248;47249;47250 | chr2:178618435;178618434;178618433 | chr2:179483162;179483161;179483160 |
| N2AB | 14034 | 42325;42326;42327 | chr2:178618435;178618434;178618433 | chr2:179483162;179483161;179483160 |
| N2A | 13107 | 39544;39545;39546 | chr2:178618435;178618434;178618433 | chr2:179483162;179483161;179483160 |
| N2B | 6610 | 20053;20054;20055 | chr2:178618435;178618434;178618433 | chr2:179483162;179483161;179483160 |
| Novex-1 | 6735 | 20428;20429;20430 | chr2:178618435;178618434;178618433 | chr2:179483162;179483161;179483160 |
| Novex-2 | 6802 | 20629;20630;20631 | chr2:178618435;178618434;178618433 | chr2:179483162;179483161;179483160 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1318161801  |
None | 0.002 | D | 0.337 | 0.141 | 0.163833314356 | 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 |
| S/G | rs1318161801 |
None | 0.002 | D | 0.337 | 0.141 | 0.163833314356 | gnomAD-4.0.0 | 6.58077E-06 | None | None | None | None | N | None | 2.41383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs776932497 |
-1.127 | 0.645 | N | 0.583 | 0.207 | 0.228597637076 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/N | rs776932497 |
-1.127 | 0.645 | N | 0.583 | 0.207 | 0.228597637076 | gnomAD-4.0.0 | 1.59413E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43345E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0979 | likely_benign | 0.1011 | benign | -0.785 | Destabilizing | 0.332 | N | 0.481 | neutral | None | None | None | None | N |
| S/C | 0.1436 | likely_benign | 0.1306 | benign | -0.708 | Destabilizing | 0.993 | D | 0.728 | prob.delet. | N | 0.514237399 | None | None | N |
| S/D | 0.7563 | likely_pathogenic | 0.6844 | pathogenic | -0.879 | Destabilizing | 0.707 | D | 0.59 | neutral | None | None | None | None | N |
| S/E | 0.7759 | likely_pathogenic | 0.6955 | pathogenic | -0.795 | Destabilizing | 0.83 | D | 0.573 | neutral | None | None | None | None | N |
| S/F | 0.4696 | ambiguous | 0.3515 | ambiguous | -0.814 | Destabilizing | 0.981 | D | 0.78 | deleterious | None | None | None | None | N |
| S/G | 0.0822 | likely_benign | 0.1226 | benign | -1.109 | Destabilizing | 0.002 | N | 0.337 | neutral | D | 0.532858394 | None | None | N |
| S/H | 0.544 | ambiguous | 0.4229 | ambiguous | -1.581 | Destabilizing | 0.995 | D | 0.732 | prob.delet. | None | None | None | None | N |
| S/I | 0.2612 | likely_benign | 0.2284 | benign | -0.006 | Destabilizing | 0.928 | D | 0.76 | deleterious | N | 0.483181404 | None | None | N |
| S/K | 0.8296 | likely_pathogenic | 0.7335 | pathogenic | -0.614 | Destabilizing | 0.707 | D | 0.59 | neutral | None | None | None | None | N |
| S/L | 0.1974 | likely_benign | 0.1536 | benign | -0.006 | Destabilizing | 0.945 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/M | 0.2518 | likely_benign | 0.2427 | benign | 0.111 | Stabilizing | 0.995 | D | 0.728 | prob.delet. | None | None | None | None | N |
| S/N | 0.261 | likely_benign | 0.2413 | benign | -0.925 | Destabilizing | 0.645 | D | 0.583 | neutral | N | 0.48330313 | None | None | N |
| S/P | 0.972 | likely_pathogenic | 0.9333 | pathogenic | -0.23 | Destabilizing | 0.945 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/Q | 0.6348 | likely_pathogenic | 0.56 | ambiguous | -0.93 | Destabilizing | 0.945 | D | 0.679 | prob.neutral | None | None | None | None | N |
| S/R | 0.7898 | likely_pathogenic | 0.661 | pathogenic | -0.707 | Destabilizing | 0.928 | D | 0.732 | prob.delet. | N | 0.482214818 | None | None | N |
| S/T | 0.0924 | likely_benign | 0.0878 | benign | -0.775 | Destabilizing | 0.645 | D | 0.529 | neutral | N | 0.4177209 | None | None | N |
| S/V | 0.2596 | likely_benign | 0.2316 | benign | -0.23 | Destabilizing | 0.945 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/W | 0.6869 | likely_pathogenic | 0.5545 | ambiguous | -0.89 | Destabilizing | 0.995 | D | 0.788 | deleterious | None | None | None | None | N |
| S/Y | 0.4507 | ambiguous | 0.3214 | benign | -0.542 | Destabilizing | 0.981 | D | 0.776 | 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.