Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19451 | 58576;58577;58578 | chr2:178594042;178594041;178594040 | chr2:179458769;179458768;179458767 |
| N2AB | 17810 | 53653;53654;53655 | chr2:178594042;178594041;178594040 | chr2:179458769;179458768;179458767 |
| N2A | 16883 | 50872;50873;50874 | chr2:178594042;178594041;178594040 | chr2:179458769;179458768;179458767 |
| N2B | 10386 | 31381;31382;31383 | chr2:178594042;178594041;178594040 | chr2:179458769;179458768;179458767 |
| Novex-1 | 10511 | 31756;31757;31758 | chr2:178594042;178594041;178594040 | chr2:179458769;179458768;179458767 |
| Novex-2 | 10578 | 31957;31958;31959 | chr2:178594042;178594041;178594040 | chr2:179458769;179458768;179458767 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs763871350  |
-0.1 | 1.0 | N | 0.743 | 0.459 | None | gnomAD-2.1.1 | 4.02E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.23E-05 | 3.31455E-04 |
| R/C | rs763871350 |
-0.1 | 1.0 | N | 0.743 | 0.459 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/C | rs763871350 |
-0.1 | 1.0 | N | 0.743 | 0.459 | None | gnomAD-4.0.0 | 4.27677E-05 | None | None | None | None | N | None | 1.33536E-05 | 1.66795E-05 | None | 0 | 0 | None | 0 | 1.64474E-04 | 5.4254E-05 | 0 | 3.20287E-05 |
| R/H | rs760068789 |
-0.774 | 1.0 | N | 0.761 | 0.419 | 0.270447802918 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/H | rs760068789 |
-0.774 | 1.0 | N | 0.761 | 0.419 | 0.270447802918 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/H | rs760068789 |
-0.774 | 1.0 | N | 0.761 | 0.419 | 0.270447802918 | gnomAD-4.0.0 | 8.67753E-06 | None | None | None | None | N | None | 1.33547E-05 | 1.66795E-05 | None | 0 | 0 | None | 0 | 0 | 7.62949E-06 | 3.29395E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9601 | likely_pathogenic | 0.9405 | pathogenic | -0.377 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| R/C | 0.8061 | likely_pathogenic | 0.7232 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.488661848 | None | None | N |
| R/D | 0.9864 | likely_pathogenic | 0.9803 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/E | 0.9177 | likely_pathogenic | 0.8915 | pathogenic | 0.067 | Stabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| R/F | 0.9808 | likely_pathogenic | 0.9698 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| R/G | 0.9431 | likely_pathogenic | 0.9143 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.606 | neutral | N | 0.467417268 | None | None | N |
| R/H | 0.6617 | likely_pathogenic | 0.581 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.46988603 | None | None | N |
| R/I | 0.8511 | likely_pathogenic | 0.7772 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| R/K | 0.3896 | ambiguous | 0.3396 | benign | -0.394 | Destabilizing | 0.998 | D | 0.549 | neutral | None | None | None | None | N |
| R/L | 0.831 | likely_pathogenic | 0.7429 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.606 | neutral | N | 0.494494716 | None | None | N |
| R/M | 0.9266 | likely_pathogenic | 0.8867 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| R/N | 0.9783 | likely_pathogenic | 0.9663 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| R/P | 0.9478 | likely_pathogenic | 0.9277 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.491686484 | None | None | N |
| R/Q | 0.5693 | likely_pathogenic | 0.4989 | ambiguous | -0.208 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| R/S | 0.9846 | likely_pathogenic | 0.9758 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.511851113 | None | None | N |
| R/T | 0.9579 | likely_pathogenic | 0.9295 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| R/V | 0.9151 | likely_pathogenic | 0.872 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| R/W | 0.8242 | likely_pathogenic | 0.7544 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| R/Y | 0.9425 | likely_pathogenic | 0.9086 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.72 | 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.