Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27342 | 82249;82250;82251 | chr2:178564108;178564107;178564106 | chr2:179428835;179428834;179428833 |
| N2AB | 25701 | 77326;77327;77328 | chr2:178564108;178564107;178564106 | chr2:179428835;179428834;179428833 |
| N2A | 24774 | 74545;74546;74547 | chr2:178564108;178564107;178564106 | chr2:179428835;179428834;179428833 |
| N2B | 18277 | 55054;55055;55056 | chr2:178564108;178564107;178564106 | chr2:179428835;179428834;179428833 |
| Novex-1 | 18402 | 55429;55430;55431 | chr2:178564108;178564107;178564106 | chr2:179428835;179428834;179428833 |
| Novex-2 | 18469 | 55630;55631;55632 | chr2:178564108;178564107;178564106 | chr2:179428835;179428834;179428833 |
| 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/I | rs758305003  |
0.069 | 0.012 | N | 0.3 | 0.099 | 0.195762928549 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.78272E-04 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs758305003 |
0.069 | 0.012 | N | 0.3 | 0.099 | 0.195762928549 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 3.86847E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs758305003 |
0.069 | 0.012 | N | 0.3 | 0.099 | 0.195762928549 | gnomAD-4.0.0 | 3.07474E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.33514E-04 | None | 0 | 0 | 2.39323E-06 | 0 | 2.84463E-05 |
| T/N | None | None | None | N | 0.122 | 0.088 | None | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 | 0.0599 | likely_benign | 0.0622 | benign | -0.286 | Destabilizing | None | N | 0.08 | neutral | N | 0.460112784 | None | None | I |
| T/C | 0.2898 | likely_benign | 0.2827 | benign | -0.319 | Destabilizing | 0.356 | N | 0.281 | neutral | None | None | None | None | I |
| T/D | 0.2289 | likely_benign | 0.2429 | benign | 0.249 | Stabilizing | 0.038 | N | 0.274 | neutral | None | None | None | None | I |
| T/E | 0.1738 | likely_benign | 0.185 | benign | 0.169 | Stabilizing | 0.038 | N | 0.267 | neutral | None | None | None | None | I |
| T/F | 0.1538 | likely_benign | 0.1717 | benign | -0.832 | Destabilizing | 0.214 | N | 0.35 | neutral | None | None | None | None | I |
| T/G | 0.13 | likely_benign | 0.1349 | benign | -0.392 | Destabilizing | 0.016 | N | 0.24 | neutral | None | None | None | None | I |
| T/H | 0.1795 | likely_benign | 0.1884 | benign | -0.6 | Destabilizing | 0.214 | N | 0.275 | neutral | None | None | None | None | I |
| T/I | 0.0889 | likely_benign | 0.0985 | benign | -0.128 | Destabilizing | 0.012 | N | 0.3 | neutral | N | 0.450802654 | None | None | I |
| T/K | 0.1365 | likely_benign | 0.1467 | benign | -0.301 | Destabilizing | 0.038 | N | 0.271 | neutral | None | None | None | None | I |
| T/L | 0.068 | likely_benign | 0.0718 | benign | -0.128 | Destabilizing | 0.016 | N | 0.251 | neutral | None | None | None | None | I |
| T/M | 0.0702 | likely_benign | 0.0727 | benign | -0.058 | Destabilizing | 0.356 | N | 0.279 | neutral | None | None | None | None | I |
| T/N | 0.0803 | likely_benign | 0.0796 | benign | -0.137 | Destabilizing | None | N | 0.122 | neutral | N | 0.466481396 | None | None | I |
| T/P | 0.1198 | likely_benign | 0.13 | benign | -0.153 | Destabilizing | 0.055 | N | 0.333 | neutral | N | 0.459299738 | None | None | I |
| T/Q | 0.1528 | likely_benign | 0.1645 | benign | -0.341 | Destabilizing | 0.214 | N | 0.355 | neutral | None | None | None | None | I |
| T/R | 0.1186 | likely_benign | 0.1276 | benign | -0.018 | Destabilizing | 0.072 | N | 0.333 | neutral | None | None | None | None | I |
| T/S | 0.0793 | likely_benign | 0.0784 | benign | -0.349 | Destabilizing | None | N | 0.103 | neutral | N | 0.422573116 | None | None | I |
| T/V | 0.0803 | likely_benign | 0.0863 | benign | -0.153 | Destabilizing | None | N | 0.103 | neutral | None | None | None | None | I |
| T/W | 0.3942 | ambiguous | 0.4304 | ambiguous | -0.867 | Destabilizing | 0.864 | D | 0.285 | neutral | None | None | None | None | I |
| T/Y | 0.1859 | likely_benign | 0.1993 | benign | -0.566 | Destabilizing | 0.356 | N | 0.321 | neutral | None | None | None | None | I |
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.