Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15871 | 47836;47837;47838 | chr2:178617474;178617473;178617472 | chr2:179482201;179482200;179482199 |
| N2AB | 14230 | 42913;42914;42915 | chr2:178617474;178617473;178617472 | chr2:179482201;179482200;179482199 |
| N2A | 13303 | 40132;40133;40134 | chr2:178617474;178617473;178617472 | chr2:179482201;179482200;179482199 |
| N2B | 6806 | 20641;20642;20643 | chr2:178617474;178617473;178617472 | chr2:179482201;179482200;179482199 |
| Novex-1 | 6931 | 21016;21017;21018 | chr2:178617474;178617473;178617472 | chr2:179482201;179482200;179482199 |
| Novex-2 | 6998 | 21217;21218;21219 | chr2:178617474;178617473;178617472 | chr2:179482201;179482200;179482199 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1032020627  |
None | 0.992 | N | 0.317 | 0.343 | 0.290222751274 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95465E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs1032020627 |
None | 0.992 | N | 0.317 | 0.343 | 0.290222751274 | gnomAD-4.0.0 | 5.9033E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.08092E-03 | None | 0 | 0 | 0 | 0 | 2.90276E-05 |
| Q/L | None | None | 0.997 | N | 0.605 | 0.384 | 0.522770035047 | gnomAD-4.0.0 | 1.63837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89995E-06 | 0 | 0 |
| Q/P | rs1327762563 |
0.986 | 0.999 | N | 0.731 | 0.408 | 0.389596023526 | gnomAD-2.1.1 | 4.37E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.43E-06 | 0 |
| Q/P | rs1327762563 |
0.986 | 0.999 | N | 0.731 | 0.408 | 0.389596023526 | gnomAD-4.0.0 | 3.27673E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.79989E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2495 | likely_benign | 0.2657 | benign | 0.549 | Stabilizing | 0.997 | D | 0.492 | neutral | None | None | None | None | N |
| Q/C | 0.661 | likely_pathogenic | 0.7069 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| Q/D | 0.5915 | likely_pathogenic | 0.6753 | pathogenic | -1.824 | Destabilizing | 0.997 | D | 0.445 | neutral | None | None | None | None | N |
| Q/E | 0.1105 | likely_benign | 0.122 | benign | -1.774 | Destabilizing | 0.992 | D | 0.317 | neutral | N | 0.473940704 | None | None | N |
| Q/F | 0.726 | likely_pathogenic | 0.75 | pathogenic | -0.057 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| Q/G | 0.374 | ambiguous | 0.439 | ambiguous | 0.316 | Stabilizing | 0.997 | D | 0.605 | neutral | None | None | None | None | N |
| Q/H | 0.3897 | ambiguous | 0.446 | ambiguous | -0.305 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.474364166 | None | None | N |
| Q/I | 0.2951 | likely_benign | 0.2978 | benign | 1.079 | Stabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| Q/K | 0.1312 | likely_benign | 0.1594 | benign | 0.347 | Stabilizing | 0.997 | D | 0.403 | neutral | N | 0.444121848 | None | None | N |
| Q/L | 0.2116 | likely_benign | 0.2353 | benign | 1.079 | Stabilizing | 0.997 | D | 0.605 | neutral | N | 0.470974649 | None | None | N |
| Q/M | 0.3496 | ambiguous | 0.3752 | ambiguous | 1.424 | Stabilizing | 0.999 | D | 0.604 | neutral | None | None | None | None | N |
| Q/N | 0.4 | ambiguous | 0.4525 | ambiguous | -0.414 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | N |
| Q/P | 0.1804 | likely_benign | 0.1699 | benign | 0.933 | Stabilizing | 0.999 | D | 0.731 | prob.delet. | N | 0.470287977 | None | None | N |
| Q/R | 0.1614 | likely_benign | 0.1808 | benign | 0.304 | Stabilizing | 0.997 | D | 0.422 | neutral | N | 0.47599173 | None | None | N |
| Q/S | 0.3276 | likely_benign | 0.3559 | ambiguous | -0.157 | Destabilizing | 0.997 | D | 0.409 | neutral | None | None | None | None | N |
| Q/T | 0.2034 | likely_benign | 0.2208 | benign | 0.032 | Stabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| Q/V | 0.2232 | likely_benign | 0.221 | benign | 0.933 | Stabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| Q/W | 0.7089 | likely_pathogenic | 0.7492 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| Q/Y | 0.602 | likely_pathogenic | 0.6548 | pathogenic | 0.267 | Stabilizing | 0.999 | D | 0.734 | prob.delet. | 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.