Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2436 | 7531;7532;7533 | chr2:178773862;178773861;178773860 | chr2:179638589;179638588;179638587 |
| N2AB | 2436 | 7531;7532;7533 | chr2:178773862;178773861;178773860 | chr2:179638589;179638588;179638587 |
| N2A | 2436 | 7531;7532;7533 | chr2:178773862;178773861;178773860 | chr2:179638589;179638588;179638587 |
| N2B | 2390 | 7393;7394;7395 | chr2:178773862;178773861;178773860 | chr2:179638589;179638588;179638587 |
| Novex-1 | 2390 | 7393;7394;7395 | chr2:178773862;178773861;178773860 | chr2:179638589;179638588;179638587 |
| Novex-2 | 2390 | 7393;7394;7395 | chr2:178773862;178773861;178773860 | chr2:179638589;179638588;179638587 |
| Novex-3 | 2436 | 7531;7532;7533 | chr2:178773862;178773861;178773860 | chr2:179638589;179638588;179638587 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs769296240  |
-0.601 | 1.0 | D | 0.791 | 0.495 | 0.603355424387 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 8.86E-06 | 0 |
| T/I | rs769296240 |
-0.601 | 1.0 | D | 0.791 | 0.495 | 0.603355424387 | gnomAD-4.0.0 | 4.7718E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.76364E-05 | 0 | 2.85664E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1341 | likely_benign | 0.1405 | benign | -1.011 | Destabilizing | 0.999 | D | 0.536 | neutral | D | 0.532472645 | None | None | N |
| T/C | 0.5416 | ambiguous | 0.5589 | ambiguous | -0.565 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/D | 0.8849 | likely_pathogenic | 0.8932 | pathogenic | 0.613 | Stabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| T/E | 0.8766 | likely_pathogenic | 0.8849 | pathogenic | 0.607 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| T/F | 0.7794 | likely_pathogenic | 0.777 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/G | 0.497 | ambiguous | 0.5156 | ambiguous | -1.209 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/H | 0.7593 | likely_pathogenic | 0.7773 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/I | 0.6407 | likely_pathogenic | 0.6269 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.536518584 | None | None | N |
| T/K | 0.8471 | likely_pathogenic | 0.8493 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| T/L | 0.4395 | ambiguous | 0.4409 | ambiguous | -0.577 | Destabilizing | 0.999 | D | 0.654 | neutral | None | None | None | None | N |
| T/M | 0.2797 | likely_benign | 0.298 | benign | -0.291 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/N | 0.4833 | ambiguous | 0.4899 | ambiguous | -0.198 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.538706296 | None | None | N |
| T/P | 0.8375 | likely_pathogenic | 0.8298 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.538882695 | None | None | N |
| T/Q | 0.7463 | likely_pathogenic | 0.7605 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| T/R | 0.7734 | likely_pathogenic | 0.7697 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| T/S | 0.1688 | likely_benign | 0.1754 | benign | -0.639 | Destabilizing | 0.999 | D | 0.544 | neutral | D | 0.532472645 | None | None | N |
| T/V | 0.3815 | ambiguous | 0.3668 | ambiguous | -0.693 | Destabilizing | 0.999 | D | 0.58 | neutral | None | None | None | None | N |
| T/W | 0.9626 | likely_pathogenic | 0.9619 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| T/Y | 0.833 | likely_pathogenic | 0.8332 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.807 | 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.