Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28555 | 85888;85889;85890 | chr2:178560469;178560468;178560467 | chr2:179425196;179425195;179425194 |
| N2AB | 26914 | 80965;80966;80967 | chr2:178560469;178560468;178560467 | chr2:179425196;179425195;179425194 |
| N2A | 25987 | 78184;78185;78186 | chr2:178560469;178560468;178560467 | chr2:179425196;179425195;179425194 |
| N2B | 19490 | 58693;58694;58695 | chr2:178560469;178560468;178560467 | chr2:179425196;179425195;179425194 |
| Novex-1 | 19615 | 59068;59069;59070 | chr2:178560469;178560468;178560467 | chr2:179425196;179425195;179425194 |
| Novex-2 | 19682 | 59269;59270;59271 | chr2:178560469;178560468;178560467 | chr2:179425196;179425195;179425194 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.78 | N | 0.588 | 0.156 | 0.198526703765 | gnomAD-4.0.0 | 1.59219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85894E-06 | 0 | 0 |
| T/K | None | None | 0.137 | N | 0.34 | 0.155 | 0.229924730088 | gnomAD-4.0.0 | 6.8437E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99536E-07 | 0 | 0 |
| T/M | rs778254289  |
0.019 | 1.0 | N | 0.692 | 0.279 | 0.347879110917 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 9.82E-05 | None | 0 | 8.91E-06 | 0 |
| T/M | rs778254289 |
0.019 | 1.0 | N | 0.692 | 0.279 | 0.347879110917 | gnomAD-4.0.0 | 9.58118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19629E-06 | 5.79912E-05 | 1.65706E-05 |
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 | 0.0639 | likely_benign | 0.0614 | benign | -0.741 | Destabilizing | 0.78 | D | 0.588 | neutral | N | 0.480501991 | None | None | N |
| T/C | 0.2701 | likely_benign | 0.2669 | benign | -0.435 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | None | None | None | None | N |
| T/D | 0.2621 | likely_benign | 0.2393 | benign | -0.347 | Destabilizing | 0.976 | D | 0.702 | prob.neutral | None | None | None | None | N |
| T/E | 0.1986 | likely_benign | 0.1745 | benign | -0.362 | Destabilizing | 0.851 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/F | 0.1925 | likely_benign | 0.1746 | benign | -0.897 | Destabilizing | 0.996 | D | 0.787 | deleterious | None | None | None | None | N |
| T/G | 0.1211 | likely_benign | 0.1195 | benign | -0.981 | Destabilizing | 0.034 | N | 0.429 | neutral | None | None | None | None | N |
| T/H | 0.1677 | likely_benign | 0.1563 | benign | -1.356 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| T/I | 0.1345 | likely_benign | 0.1163 | benign | -0.197 | Destabilizing | 0.988 | D | 0.74 | deleterious | None | None | None | None | N |
| T/K | 0.0933 | likely_benign | 0.0861 | benign | -0.732 | Destabilizing | 0.137 | N | 0.34 | neutral | N | 0.449005648 | None | None | N |
| T/L | 0.0761 | likely_benign | 0.07 | benign | -0.197 | Destabilizing | 0.919 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/M | 0.0898 | likely_benign | 0.0831 | benign | 0.183 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.517636227 | None | None | N |
| T/N | 0.1013 | likely_benign | 0.0964 | benign | -0.621 | Destabilizing | 0.976 | D | 0.623 | neutral | None | None | None | None | N |
| T/P | 0.1785 | likely_benign | 0.1497 | benign | -0.346 | Destabilizing | 0.984 | D | 0.737 | prob.delet. | N | 0.472671941 | None | None | N |
| T/Q | 0.1366 | likely_benign | 0.1276 | benign | -0.837 | Destabilizing | 0.976 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/R | 0.0925 | likely_benign | 0.0849 | benign | -0.494 | Destabilizing | 0.975 | D | 0.703 | prob.neutral | N | 0.459182569 | None | None | N |
| T/S | 0.0796 | likely_benign | 0.079 | benign | -0.865 | Destabilizing | 0.896 | D | 0.554 | neutral | N | 0.410255259 | None | None | N |
| T/V | 0.1015 | likely_benign | 0.0926 | benign | -0.346 | Destabilizing | 0.959 | D | 0.609 | neutral | None | None | None | None | N |
| T/W | 0.5181 | ambiguous | 0.4675 | ambiguous | -0.833 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| T/Y | 0.2078 | likely_benign | 0.194 | benign | -0.597 | Destabilizing | 0.996 | D | 0.783 | 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.