Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16559 | 49900;49901;49902 | chr2:178613046;178613045;178613044 | chr2:179477773;179477772;179477771 |
| N2AB | 14918 | 44977;44978;44979 | chr2:178613046;178613045;178613044 | chr2:179477773;179477772;179477771 |
| N2A | 13991 | 42196;42197;42198 | chr2:178613046;178613045;178613044 | chr2:179477773;179477772;179477771 |
| N2B | 7494 | 22705;22706;22707 | chr2:178613046;178613045;178613044 | chr2:179477773;179477772;179477771 |
| Novex-1 | 7619 | 23080;23081;23082 | chr2:178613046;178613045;178613044 | chr2:179477773;179477772;179477771 |
| Novex-2 | 7686 | 23281;23282;23283 | chr2:178613046;178613045;178613044 | chr2:179477773;179477772;179477771 |
| 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 | rs772176256  |
-0.794 | 0.027 | N | 0.473 | 0.059 | 0.119812018005 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/A | rs772176256 |
-0.794 | 0.027 | N | 0.473 | 0.059 | 0.119812018005 | gnomAD-4.0.0 | 1.3693E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31965E-05 | 0 |
| T/I | None | None | None | N | 0.347 | 0.055 | 0.134241683229 | gnomAD-4.0.0 | 6.84644E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99868E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0777 | likely_benign | 0.073 | benign | -0.796 | Destabilizing | 0.027 | N | 0.473 | neutral | N | 0.481473423 | None | None | N |
| T/C | 0.3458 | ambiguous | 0.3204 | benign | -0.502 | Destabilizing | 0.824 | D | 0.599 | neutral | None | None | None | None | N |
| T/D | 0.3058 | likely_benign | 0.3318 | benign | 0.069 | Stabilizing | 0.235 | N | 0.577 | neutral | None | None | None | None | N |
| T/E | 0.2218 | likely_benign | 0.2499 | benign | 0.075 | Stabilizing | 0.38 | N | 0.572 | neutral | None | None | None | None | N |
| T/F | 0.1366 | likely_benign | 0.1302 | benign | -0.847 | Destabilizing | 0.38 | N | 0.687 | prob.neutral | None | None | None | None | N |
| T/G | 0.2403 | likely_benign | 0.2135 | benign | -1.057 | Destabilizing | 0.081 | N | 0.602 | neutral | None | None | None | None | N |
| T/H | 0.2071 | likely_benign | 0.2111 | benign | -1.308 | Destabilizing | 0.824 | D | 0.666 | neutral | None | None | None | None | N |
| T/I | 0.0647 | likely_benign | 0.0639 | benign | -0.195 | Destabilizing | None | N | 0.347 | neutral | N | 0.487297109 | None | None | N |
| T/K | 0.2042 | likely_benign | 0.2613 | benign | -0.652 | Destabilizing | 0.38 | N | 0.577 | neutral | None | None | None | None | N |
| T/L | 0.0734 | likely_benign | 0.0706 | benign | -0.195 | Destabilizing | 0.012 | N | 0.479 | neutral | None | None | None | None | N |
| T/M | 0.0742 | likely_benign | 0.0696 | benign | -0.012 | Destabilizing | 0.38 | N | 0.623 | neutral | None | None | None | None | N |
| T/N | 0.1124 | likely_benign | 0.1042 | benign | -0.588 | Destabilizing | 0.001 | N | 0.295 | neutral | N | 0.483645556 | None | None | N |
| T/P | 0.475 | ambiguous | 0.5328 | ambiguous | -0.363 | Destabilizing | 0.741 | D | 0.617 | neutral | D | 0.57446858 | None | None | N |
| T/Q | 0.1861 | likely_benign | 0.1913 | benign | -0.708 | Destabilizing | 0.555 | D | 0.625 | neutral | None | None | None | None | N |
| T/R | 0.1767 | likely_benign | 0.2315 | benign | -0.481 | Destabilizing | 0.38 | N | 0.614 | neutral | None | None | None | None | N |
| T/S | 0.1068 | likely_benign | 0.0928 | benign | -0.905 | Destabilizing | 0.062 | N | 0.457 | neutral | N | 0.47539173 | None | None | N |
| T/V | 0.0591 | likely_benign | 0.0548 | benign | -0.363 | Destabilizing | None | N | 0.185 | neutral | None | None | None | None | N |
| T/W | 0.4801 | ambiguous | 0.5178 | ambiguous | -0.778 | Destabilizing | 0.935 | D | 0.716 | prob.delet. | None | None | None | None | N |
| T/Y | 0.2169 | likely_benign | 0.2276 | benign | -0.543 | Destabilizing | 0.555 | D | 0.685 | prob.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.