Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24794 | 74605;74606;74607 | chr2:178571752;178571751;178571750 | chr2:179436479;179436478;179436477 |
| N2AB | 23153 | 69682;69683;69684 | chr2:178571752;178571751;178571750 | chr2:179436479;179436478;179436477 |
| N2A | 22226 | 66901;66902;66903 | chr2:178571752;178571751;178571750 | chr2:179436479;179436478;179436477 |
| N2B | 15729 | 47410;47411;47412 | chr2:178571752;178571751;178571750 | chr2:179436479;179436478;179436477 |
| Novex-1 | 15854 | 47785;47786;47787 | chr2:178571752;178571751;178571750 | chr2:179436479;179436478;179436477 |
| Novex-2 | 15921 | 47986;47987;47988 | chr2:178571752;178571751;178571750 | chr2:179436479;179436478;179436477 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 0.999 | D | 0.629 | 0.583 | 0.58620451499 | gnomAD-4.0.0 | 6.84391E-07 | None | None | None | None | I | None | 0 | 2.23724E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.989 | N | 0.587 | 0.407 | 0.417460480802 | gnomAD-4.0.0 | 6.84391E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99669E-07 | 0 | 0 |
| A/V | None | None | 0.117 | N | 0.403 | 0.22 | 0.296329037015 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4317 | ambiguous | 0.4817 | ambiguous | -0.813 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| A/D | 0.7607 | likely_pathogenic | 0.7814 | pathogenic | -0.492 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | N | 0.517336298 | None | None | I |
| A/E | 0.6081 | likely_pathogenic | 0.6503 | pathogenic | -0.649 | Destabilizing | 0.998 | D | 0.623 | neutral | None | None | None | None | I |
| A/F | 0.3977 | ambiguous | 0.4264 | ambiguous | -0.903 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | I |
| A/G | 0.249 | likely_benign | 0.2765 | benign | -0.213 | Destabilizing | 0.989 | D | 0.59 | neutral | N | 0.500331226 | None | None | I |
| A/H | 0.6605 | likely_pathogenic | 0.7013 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| A/I | 0.231 | likely_benign | 0.254 | benign | -0.385 | Destabilizing | 0.966 | D | 0.594 | neutral | None | None | None | None | I |
| A/K | 0.7581 | likely_pathogenic | 0.7974 | pathogenic | -0.52 | Destabilizing | 0.998 | D | 0.621 | neutral | None | None | None | None | I |
| A/L | 0.2519 | likely_benign | 0.2821 | benign | -0.385 | Destabilizing | 0.966 | D | 0.518 | neutral | None | None | None | None | I |
| A/M | 0.2601 | likely_benign | 0.2839 | benign | -0.488 | Destabilizing | 0.999 | D | 0.634 | neutral | None | None | None | None | I |
| A/N | 0.5382 | ambiguous | 0.5657 | pathogenic | -0.231 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | I |
| A/P | 0.8834 | likely_pathogenic | 0.893 | pathogenic | -0.298 | Destabilizing | 0.999 | D | 0.629 | neutral | D | 0.540213493 | None | None | I |
| A/Q | 0.5637 | ambiguous | 0.6165 | pathogenic | -0.508 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | I |
| A/R | 0.6697 | likely_pathogenic | 0.7128 | pathogenic | -0.071 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | I |
| A/S | 0.1205 | likely_benign | 0.124 | benign | -0.413 | Destabilizing | 0.989 | D | 0.587 | neutral | N | 0.48402417 | None | None | I |
| A/T | 0.1199 | likely_benign | 0.1231 | benign | -0.497 | Destabilizing | 0.977 | D | 0.582 | neutral | N | 0.507457569 | None | None | I |
| A/V | 0.1015 | likely_benign | 0.1114 | benign | -0.298 | Destabilizing | 0.117 | N | 0.403 | neutral | N | 0.451942457 | None | None | I |
| A/W | 0.8775 | likely_pathogenic | 0.8957 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| A/Y | 0.6532 | likely_pathogenic | 0.6865 | pathogenic | -0.679 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | I |
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.