Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23524 | 70795;70796;70797 | chr2:178575562;178575561;178575560 | chr2:179440289;179440288;179440287 |
| N2AB | 21883 | 65872;65873;65874 | chr2:178575562;178575561;178575560 | chr2:179440289;179440288;179440287 |
| N2A | 20956 | 63091;63092;63093 | chr2:178575562;178575561;178575560 | chr2:179440289;179440288;179440287 |
| N2B | 14459 | 43600;43601;43602 | chr2:178575562;178575561;178575560 | chr2:179440289;179440288;179440287 |
| Novex-1 | 14584 | 43975;43976;43977 | chr2:178575562;178575561;178575560 | chr2:179440289;179440288;179440287 |
| Novex-2 | 14651 | 44176;44177;44178 | chr2:178575562;178575561;178575560 | chr2:179440289;179440288;179440287 |
| 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 | rs369526268  |
0.078 | None | N | 0.038 | 0.093 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.23E-05 | 0 |
| T/A | rs369526268 |
0.078 | None | N | 0.038 | 0.093 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02938E-04 | 0 | 0 |
| T/A | rs369526268 |
0.078 | None | N | 0.038 | 0.093 | None | gnomAD-4.0.0 | 5.57772E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56187E-05 | 0 | 7.29019E-05 | 0 | 4.80338E-05 |
| T/K | rs748544908 |
0.083 | None | N | 0.111 | 0.087 | 0.201204373187 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/K | rs748544908 |
0.083 | None | N | 0.111 | 0.087 | 0.201204373187 | gnomAD-4.0.0 | 6.84257E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-05 | 0 |
| T/R | None | None | 0.112 | N | 0.421 | 0.069 | 0.358134431457 | gnomAD-4.0.0 | 6.84257E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0559 | likely_benign | 0.0563 | benign | -0.142 | Destabilizing | None | N | 0.038 | neutral | N | 0.427510081 | None | None | N |
| T/C | 0.2748 | likely_benign | 0.2717 | benign | -0.412 | Destabilizing | 0.703 | D | 0.394 | neutral | None | None | None | None | N |
| T/D | 0.2295 | likely_benign | 0.2513 | benign | -0.04 | Destabilizing | 0.121 | N | 0.363 | neutral | None | None | None | None | N |
| T/E | 0.1708 | likely_benign | 0.191 | benign | -0.13 | Destabilizing | 0.064 | N | 0.319 | neutral | None | None | None | None | N |
| T/F | 0.1744 | likely_benign | 0.1915 | benign | -0.804 | Destabilizing | 0.703 | D | 0.551 | neutral | None | None | None | None | N |
| T/G | 0.1188 | likely_benign | 0.1192 | benign | -0.201 | Destabilizing | 0.064 | N | 0.275 | neutral | None | None | None | None | N |
| T/H | 0.1847 | likely_benign | 0.1944 | benign | -0.328 | Destabilizing | 0.703 | D | 0.467 | neutral | None | None | None | None | N |
| T/I | 0.0917 | likely_benign | 0.1005 | benign | -0.111 | Destabilizing | 0.201 | N | 0.47 | neutral | N | 0.483227291 | None | None | N |
| T/K | 0.1172 | likely_benign | 0.128 | benign | -0.317 | Destabilizing | None | N | 0.111 | neutral | N | 0.44040202 | None | None | N |
| T/L | 0.0614 | likely_benign | 0.0634 | benign | -0.111 | Destabilizing | 0.121 | N | 0.343 | neutral | None | None | None | None | N |
| T/M | 0.0689 | likely_benign | 0.0692 | benign | -0.201 | Destabilizing | 0.878 | D | 0.381 | neutral | None | None | None | None | N |
| T/N | 0.092 | likely_benign | 0.0944 | benign | -0.141 | Destabilizing | 0.25 | N | 0.225 | neutral | None | None | None | None | N |
| T/P | 0.0623 | likely_benign | 0.0629 | benign | -0.098 | Destabilizing | None | N | 0.079 | neutral | N | 0.450176297 | None | None | N |
| T/Q | 0.1375 | likely_benign | 0.1413 | benign | -0.338 | Destabilizing | 0.143 | N | 0.461 | neutral | None | None | None | None | N |
| T/R | 0.1154 | likely_benign | 0.1308 | benign | -0.012 | Destabilizing | 0.112 | N | 0.421 | neutral | N | 0.504240068 | None | None | N |
| T/S | 0.078 | likely_benign | 0.0766 | benign | -0.289 | Destabilizing | 0.004 | N | 0.061 | neutral | N | 0.369712571 | None | None | N |
| T/V | 0.0756 | likely_benign | 0.0796 | benign | -0.098 | Destabilizing | 0.064 | N | 0.215 | neutral | None | None | None | None | N |
| T/W | 0.455 | ambiguous | 0.4814 | ambiguous | -0.906 | Destabilizing | 0.964 | D | 0.476 | neutral | None | None | None | None | N |
| T/Y | 0.2321 | likely_benign | 0.2512 | benign | -0.579 | Destabilizing | 0.878 | D | 0.545 | neutral | 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.