Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5445 | 16558;16559;16560 | chr2:178732843;178732842;178732841 | chr2:179597570;179597569;179597568 |
| N2AB | 5128 | 15607;15608;15609 | chr2:178732843;178732842;178732841 | chr2:179597570;179597569;179597568 |
| N2A | 4201 | 12826;12827;12828 | chr2:178732843;178732842;178732841 | chr2:179597570;179597569;179597568 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs1360601333  |
-0.418 | 0.002 | N | 0.192 | 0.088 | 0.420199648628 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| I/L | rs1360601333 |
-0.418 | 0.002 | N | 0.192 | 0.088 | 0.420199648628 | gnomAD-4.0.0 | 2.05861E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70525E-06 | 0 | 0 |
| I/M | rs1485054332 |
-0.488 | 0.171 | N | 0.289 | 0.173 | 0.440182696023 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| I/T | rs1286622718 |
-0.849 | None | N | 0.115 | 0.273 | 0.538929202391 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| I/T | rs1286622718 |
-0.849 | None | N | 0.115 | 0.273 | 0.538929202391 | gnomAD-4.0.0 | 1.6019E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88136E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1478 | likely_benign | 0.1868 | benign | -1.216 | Destabilizing | 0.007 | N | 0.236 | neutral | None | None | None | None | N |
| I/C | 0.5729 | likely_pathogenic | 0.6237 | pathogenic | -0.722 | Destabilizing | 0.356 | N | 0.369 | neutral | None | None | None | None | N |
| I/D | 0.4354 | ambiguous | 0.5425 | ambiguous | -0.627 | Destabilizing | 0.072 | N | 0.496 | neutral | None | None | None | None | N |
| I/E | 0.3446 | ambiguous | 0.4483 | ambiguous | -0.692 | Destabilizing | 0.072 | N | 0.455 | neutral | None | None | None | None | N |
| I/F | 0.0958 | likely_benign | 0.11 | benign | -1.021 | Destabilizing | None | N | 0.091 | neutral | N | 0.490238687 | None | None | N |
| I/G | 0.4234 | ambiguous | 0.5086 | ambiguous | -1.457 | Destabilizing | 0.031 | N | 0.403 | neutral | None | None | None | None | N |
| I/H | 0.227 | likely_benign | 0.2723 | benign | -0.688 | Destabilizing | 0.214 | N | 0.439 | neutral | None | None | None | None | N |
| I/K | 0.1747 | likely_benign | 0.2372 | benign | -0.709 | Destabilizing | 0.072 | N | 0.457 | neutral | None | None | None | None | N |
| I/L | 0.0879 | likely_benign | 0.0998 | benign | -0.668 | Destabilizing | 0.002 | N | 0.192 | neutral | N | 0.515068429 | None | None | N |
| I/M | 0.0821 | likely_benign | 0.0902 | benign | -0.473 | Destabilizing | 0.171 | N | 0.289 | neutral | N | 0.491973434 | None | None | N |
| I/N | 0.1352 | likely_benign | 0.1745 | benign | -0.424 | Destabilizing | 0.055 | N | 0.495 | neutral | D | 0.529536449 | None | None | N |
| I/P | 0.7384 | likely_pathogenic | 0.8049 | pathogenic | -0.818 | Destabilizing | 0.136 | N | 0.511 | neutral | None | None | None | None | N |
| I/Q | 0.214 | likely_benign | 0.274 | benign | -0.689 | Destabilizing | 0.136 | N | 0.498 | neutral | None | None | None | None | N |
| I/R | 0.1117 | likely_benign | 0.1481 | benign | -0.08 | Destabilizing | 0.072 | N | 0.501 | neutral | None | None | None | None | N |
| I/S | 0.1367 | likely_benign | 0.1666 | benign | -0.97 | Destabilizing | 0.001 | N | 0.191 | neutral | N | 0.508371743 | None | None | N |
| I/T | 0.0791 | likely_benign | 0.093 | benign | -0.927 | Destabilizing | None | N | 0.115 | neutral | N | 0.464060819 | None | None | N |
| I/V | 0.0696 | likely_benign | 0.0783 | benign | -0.818 | Destabilizing | None | N | 0.074 | neutral | N | 0.477627549 | None | None | N |
| I/W | 0.5565 | ambiguous | 0.5963 | pathogenic | -1.016 | Destabilizing | 0.628 | D | 0.425 | neutral | None | None | None | None | N |
| I/Y | 0.2982 | likely_benign | 0.3527 | ambiguous | -0.79 | Destabilizing | None | N | 0.129 | 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.