Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32143 | 96652;96653;96654 | chr2:178543546;178543545;178543544 | chr2:179408273;179408272;179408271 |
| N2AB | 30502 | 91729;91730;91731 | chr2:178543546;178543545;178543544 | chr2:179408273;179408272;179408271 |
| N2A | 29575 | 88948;88949;88950 | chr2:178543546;178543545;178543544 | chr2:179408273;179408272;179408271 |
| N2B | 23078 | 69457;69458;69459 | chr2:178543546;178543545;178543544 | chr2:179408273;179408272;179408271 |
| Novex-1 | 23203 | 69832;69833;69834 | chr2:178543546;178543545;178543544 | chr2:179408273;179408272;179408271 |
| Novex-2 | 23270 | 70033;70034;70035 | chr2:178543546;178543545;178543544 | chr2:179408273;179408272;179408271 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs904892183  |
-2.026 | 1.0 | N | 0.745 | 0.605 | 0.469989170139 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| E/G | rs904892183 |
-2.026 | 1.0 | N | 0.745 | 0.605 | 0.469989170139 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| E/G | rs904892183 |
-2.026 | 1.0 | N | 0.745 | 0.605 | 0.469989170139 | gnomAD-4.0.0 | 1.41169E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39329E-05 | 0 | 2.84641E-05 |
| E/K | rs1002264891 |
None | 1.0 | N | 0.694 | 0.387 | 0.352910780287 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs1002264891 |
None | 1.0 | N | 0.694 | 0.387 | 0.352910780287 | gnomAD-4.0.0 | 1.86078E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54295E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.9343 | likely_pathogenic | 0.9382 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.516758007 | None | None | N |
| E/C | 0.9943 | likely_pathogenic | 0.9939 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| E/D | 0.9069 | likely_pathogenic | 0.9005 | pathogenic | -1.539 | Destabilizing | 0.998 | D | 0.667 | neutral | N | 0.473561285 | None | None | N |
| E/F | 0.9983 | likely_pathogenic | 0.9973 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| E/G | 0.9566 | likely_pathogenic | 0.9528 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.518532434 | None | None | N |
| E/H | 0.9926 | likely_pathogenic | 0.9901 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| E/I | 0.99 | likely_pathogenic | 0.9904 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/K | 0.972 | likely_pathogenic | 0.9672 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.492777949 | None | None | N |
| E/L | 0.9882 | likely_pathogenic | 0.9867 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| E/M | 0.9781 | likely_pathogenic | 0.9778 | pathogenic | 0.644 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| E/N | 0.9858 | likely_pathogenic | 0.9865 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| E/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| E/Q | 0.5558 | ambiguous | 0.5826 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.49121763 | None | None | N |
| E/R | 0.9797 | likely_pathogenic | 0.9763 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| E/S | 0.9352 | likely_pathogenic | 0.9411 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| E/T | 0.9765 | likely_pathogenic | 0.9784 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| E/V | 0.9708 | likely_pathogenic | 0.9724 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.51093511 | None | None | N |
| E/W | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| E/Y | 0.9974 | likely_pathogenic | 0.9962 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.778 | 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.