Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21095 | 63508;63509;63510 | chr2:178588124;178588123;178588122 | chr2:179452851;179452850;179452849 |
| N2AB | 19454 | 58585;58586;58587 | chr2:178588124;178588123;178588122 | chr2:179452851;179452850;179452849 |
| N2A | 18527 | 55804;55805;55806 | chr2:178588124;178588123;178588122 | chr2:179452851;179452850;179452849 |
| N2B | 12030 | 36313;36314;36315 | chr2:178588124;178588123;178588122 | chr2:179452851;179452850;179452849 |
| Novex-1 | 12155 | 36688;36689;36690 | chr2:178588124;178588123;178588122 | chr2:179452851;179452850;179452849 |
| Novex-2 | 12222 | 36889;36890;36891 | chr2:178588124;178588123;178588122 | chr2:179452851;179452850;179452849 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs538105258  |
-0.193 | 1.0 | N | 0.673 | 0.409 | 0.634924397808 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 5.81E-05 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs538105258 |
-0.193 | 1.0 | N | 0.673 | 0.409 | 0.634924397808 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 1.96928E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs538105258 |
-0.193 | 1.0 | N | 0.673 | 0.409 | 0.634924397808 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/L | rs538105258 |
-0.193 | 1.0 | N | 0.673 | 0.409 | 0.634924397808 | gnomAD-4.0.0 | 6.20087E-06 | None | None | None | None | I | None | 0 | 6.67379E-05 | None | 3.38203E-05 | 2.23954E-05 | None | 0 | 0 | 3.39216E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1556 | likely_benign | 0.1177 | benign | -0.695 | Destabilizing | 1.0 | D | 0.62 | neutral | N | 0.507197442 | None | None | I |
| P/C | 0.8069 | likely_pathogenic | 0.711 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | I |
| P/D | 0.6095 | likely_pathogenic | 0.4847 | ambiguous | -0.578 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| P/E | 0.441 | ambiguous | 0.3358 | benign | -0.686 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| P/F | 0.8588 | likely_pathogenic | 0.7707 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.585 | neutral | None | None | None | None | I |
| P/G | 0.5988 | likely_pathogenic | 0.449 | ambiguous | -0.855 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| P/H | 0.4362 | ambiguous | 0.3393 | benign | -0.406 | Destabilizing | 1.0 | D | 0.608 | neutral | None | None | None | None | I |
| P/I | 0.6983 | likely_pathogenic | 0.5729 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| P/K | 0.5392 | ambiguous | 0.4217 | ambiguous | -0.634 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| P/L | 0.33 | likely_benign | 0.2468 | benign | -0.414 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.479675854 | None | None | I |
| P/M | 0.6207 | likely_pathogenic | 0.4876 | ambiguous | -0.368 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | I |
| P/N | 0.5372 | ambiguous | 0.4181 | ambiguous | -0.33 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| P/Q | 0.3241 | likely_benign | 0.2407 | benign | -0.601 | Destabilizing | 1.0 | D | 0.654 | neutral | N | 0.470495141 | None | None | I |
| P/R | 0.3948 | ambiguous | 0.3108 | benign | -0.051 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.483781864 | None | None | I |
| P/S | 0.2752 | likely_benign | 0.1973 | benign | -0.683 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.462430518 | None | None | I |
| P/T | 0.2813 | likely_benign | 0.1963 | benign | -0.694 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.458822894 | None | None | I |
| P/V | 0.4841 | ambiguous | 0.3606 | ambiguous | -0.472 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| P/W | 0.9072 | likely_pathogenic | 0.8338 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| P/Y | 0.7892 | likely_pathogenic | 0.6752 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.591 | 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.