Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17410 | 52453;52454;52455 | chr2:178608783;178608782;178608781 | chr2:179473510;179473509;179473508 |
| N2AB | 15769 | 47530;47531;47532 | chr2:178608783;178608782;178608781 | chr2:179473510;179473509;179473508 |
| N2A | 14842 | 44749;44750;44751 | chr2:178608783;178608782;178608781 | chr2:179473510;179473509;179473508 |
| N2B | 8345 | 25258;25259;25260 | chr2:178608783;178608782;178608781 | chr2:179473510;179473509;179473508 |
| Novex-1 | 8470 | 25633;25634;25635 | chr2:178608783;178608782;178608781 | chr2:179473510;179473509;179473508 |
| Novex-2 | 8537 | 25834;25835;25836 | chr2:178608783;178608782;178608781 | chr2:179473510;179473509;179473508 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs757885544  |
-1.222 | 0.006 | N | 0.355 | 0.276 | 0.246773566709 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| D/G | rs757885544 |
-1.222 | 0.006 | N | 0.355 | 0.276 | 0.246773566709 | gnomAD-4.0.0 | 4.78126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.586E-06 | 0 | 0 |
| D/H | None | None | 0.98 | N | 0.739 | 0.456 | 0.429320821379 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| D/V | rs757885544 |
0.287 | 0.864 | N | 0.766 | 0.384 | 0.62097610211 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs757885544 |
0.287 | 0.864 | N | 0.766 | 0.384 | 0.62097610211 | 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 |
| D/V | rs757885544 |
0.287 | 0.864 | N | 0.766 | 0.384 | 0.62097610211 | gnomAD-4.0.0 | 6.5786E-06 | None | None | None | None | N | None | 2.41278E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8976 | likely_pathogenic | 0.8866 | pathogenic | -0.682 | Destabilizing | 0.477 | N | 0.57 | neutral | N | 0.488003966 | None | None | N |
| D/C | 0.8961 | likely_pathogenic | 0.8961 | pathogenic | -0.476 | Destabilizing | 0.995 | D | 0.728 | prob.delet. | None | None | None | None | N |
| D/E | 0.5379 | ambiguous | 0.5524 | ambiguous | -0.906 | Destabilizing | 0.006 | N | 0.339 | neutral | N | 0.420200106 | None | None | N |
| D/F | 0.9763 | likely_pathogenic | 0.9786 | pathogenic | -0.522 | Destabilizing | 0.995 | D | 0.745 | deleterious | None | None | None | None | N |
| D/G | 0.9251 | likely_pathogenic | 0.9149 | pathogenic | -1.081 | Destabilizing | 0.006 | N | 0.355 | neutral | N | 0.47145769 | None | None | N |
| D/H | 0.9381 | likely_pathogenic | 0.9352 | pathogenic | -0.911 | Destabilizing | 0.98 | D | 0.739 | prob.delet. | N | 0.489397361 | None | None | N |
| D/I | 0.9142 | likely_pathogenic | 0.9231 | pathogenic | 0.396 | Stabilizing | 0.945 | D | 0.772 | deleterious | None | None | None | None | N |
| D/K | 0.9761 | likely_pathogenic | 0.975 | pathogenic | -0.923 | Destabilizing | 0.809 | D | 0.681 | prob.neutral | None | None | None | None | N |
| D/L | 0.9091 | likely_pathogenic | 0.9175 | pathogenic | 0.396 | Stabilizing | 0.894 | D | 0.77 | deleterious | None | None | None | None | N |
| D/M | 0.9673 | likely_pathogenic | 0.9688 | pathogenic | 0.982 | Stabilizing | 0.995 | D | 0.735 | prob.delet. | None | None | None | None | N |
| D/N | 0.6394 | likely_pathogenic | 0.6391 | pathogenic | -1.283 | Destabilizing | 0.864 | D | 0.588 | neutral | N | 0.467152049 | None | None | N |
| D/P | 0.9799 | likely_pathogenic | 0.9847 | pathogenic | 0.061 | Stabilizing | 0.945 | D | 0.777 | deleterious | None | None | None | None | N |
| D/Q | 0.9469 | likely_pathogenic | 0.9406 | pathogenic | -1.033 | Destabilizing | 0.809 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/R | 0.9761 | likely_pathogenic | 0.9736 | pathogenic | -0.912 | Destabilizing | 0.894 | D | 0.761 | deleterious | None | None | None | None | N |
| D/S | 0.8569 | likely_pathogenic | 0.8511 | pathogenic | -1.724 | Destabilizing | 0.547 | D | 0.496 | neutral | None | None | None | None | N |
| D/T | 0.9415 | likely_pathogenic | 0.9439 | pathogenic | -1.369 | Destabilizing | 0.894 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/V | 0.8326 | likely_pathogenic | 0.837 | pathogenic | 0.061 | Stabilizing | 0.864 | D | 0.766 | deleterious | N | 0.51213162 | None | None | N |
| D/W | 0.9884 | likely_pathogenic | 0.9875 | pathogenic | -0.573 | Destabilizing | 0.995 | D | 0.702 | prob.neutral | None | None | None | None | N |
| D/Y | 0.8229 | likely_pathogenic | 0.8245 | pathogenic | -0.34 | Destabilizing | 0.993 | D | 0.748 | deleterious | N | 0.508515574 | 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.