Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8993 | 27202;27203;27204 | chr2:178713157;178713156;178713155 | chr2:179577884;179577883;179577882 |
| N2AB | 8676 | 26251;26252;26253 | chr2:178713157;178713156;178713155 | chr2:179577884;179577883;179577882 |
| N2A | 7749 | 23470;23471;23472 | chr2:178713157;178713156;178713155 | chr2:179577884;179577883;179577882 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs1453136220  |
-0.282 | 0.033 | N | 0.536 | 0.173 | 0.0806252709748 | gnomAD-2.1.1 | 4.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.59689E-04 | None | 0 | 0 | 0 |
| S/R | rs1453136220 |
-0.282 | 0.033 | N | 0.536 | 0.173 | 0.0806252709748 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.21375E-04 | 0 |
| S/R | rs1453136220 |
-0.282 | 0.033 | N | 0.536 | 0.173 | 0.0806252709748 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/R | rs1453136220 |
-0.282 | 0.033 | N | 0.536 | 0.173 | 0.0806252709748 | gnomAD-4.0.0 | 3.18282E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7169E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0556 | likely_benign | 0.061 | benign | -0.792 | Destabilizing | None | N | 0.064 | neutral | None | None | None | None | N |
| S/C | 0.0998 | likely_benign | 0.1117 | benign | -0.483 | Destabilizing | None | N | 0.273 | neutral | D | 0.526641915 | None | None | N |
| S/D | 0.235 | likely_benign | 0.3284 | benign | -0.695 | Destabilizing | 0.009 | N | 0.37 | neutral | None | None | None | None | N |
| S/E | 0.2177 | likely_benign | 0.3136 | benign | -0.69 | Destabilizing | None | N | 0.069 | neutral | None | None | None | None | N |
| S/F | 0.1405 | likely_benign | 0.1799 | benign | -1.026 | Destabilizing | 0.138 | N | 0.611 | neutral | None | None | None | None | N |
| S/G | 0.0686 | likely_benign | 0.0846 | benign | -1.05 | Destabilizing | None | N | 0.073 | neutral | N | 0.492128472 | None | None | N |
| S/H | 0.198 | likely_benign | 0.2715 | benign | -1.576 | Destabilizing | 0.245 | N | 0.487 | neutral | None | None | None | None | N |
| S/I | 0.1019 | likely_benign | 0.141 | benign | -0.208 | Destabilizing | 0.017 | N | 0.514 | neutral | N | 0.497991049 | None | None | N |
| S/K | 0.2254 | likely_benign | 0.35 | ambiguous | -0.783 | Destabilizing | 0.009 | N | 0.356 | neutral | None | None | None | None | N |
| S/L | 0.0771 | likely_benign | 0.0925 | benign | -0.208 | Destabilizing | 0.003 | N | 0.314 | neutral | None | None | None | None | N |
| S/M | 0.1069 | likely_benign | 0.1441 | benign | 0.24 | Stabilizing | 0.004 | N | 0.267 | neutral | None | None | None | None | N |
| S/N | 0.1096 | likely_benign | 0.1569 | benign | -0.83 | Destabilizing | 0.033 | N | 0.428 | neutral | N | 0.504383377 | None | None | N |
| S/P | 0.5011 | ambiguous | 0.5827 | pathogenic | -0.369 | Destabilizing | None | N | 0.173 | neutral | None | None | None | None | N |
| S/Q | 0.2247 | likely_benign | 0.3151 | benign | -0.997 | Destabilizing | 0.022 | N | 0.427 | neutral | None | None | None | None | N |
| S/R | 0.163 | likely_benign | 0.2527 | benign | -0.651 | Destabilizing | 0.033 | N | 0.536 | neutral | N | 0.497800012 | None | None | N |
| S/T | 0.0621 | likely_benign | 0.0769 | benign | -0.787 | Destabilizing | None | N | 0.132 | neutral | N | 0.51230027 | None | None | N |
| S/V | 0.1049 | likely_benign | 0.1368 | benign | -0.369 | Destabilizing | 0.009 | N | 0.345 | neutral | None | None | None | None | N |
| S/W | 0.2118 | likely_benign | 0.2587 | benign | -1.028 | Destabilizing | 0.788 | D | 0.531 | neutral | None | None | None | None | N |
| S/Y | 0.1254 | likely_benign | 0.1584 | benign | -0.753 | Destabilizing | 0.245 | N | 0.6 | 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.