Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29223 | 87892;87893;87894 | chr2:178557687;178557686;178557685 | chr2:179422414;179422413;179422412 |
| N2AB | 27582 | 82969;82970;82971 | chr2:178557687;178557686;178557685 | chr2:179422414;179422413;179422412 |
| N2A | 26655 | 80188;80189;80190 | chr2:178557687;178557686;178557685 | chr2:179422414;179422413;179422412 |
| N2B | 20158 | 60697;60698;60699 | chr2:178557687;178557686;178557685 | chr2:179422414;179422413;179422412 |
| Novex-1 | 20283 | 61072;61073;61074 | chr2:178557687;178557686;178557685 | chr2:179422414;179422413;179422412 |
| Novex-2 | 20350 | 61273;61274;61275 | chr2:178557687;178557686;178557685 | chr2:179422414;179422413;179422412 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/P | rs369880812  |
None | 1.0 | N | 0.699 | 0.442 | 0.368743488249 | gnomAD-4.0.0 | 6.84168E-07 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs369880812 |
-1.118 | 1.0 | N | 0.61 | 0.348 | 0.313518423057 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| H/R | rs369880812 |
-1.118 | 1.0 | N | 0.61 | 0.348 | 0.313518423057 | gnomAD-4.0.0 | 6.15751E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.04358E-04 | 0 |
| H/Y | None | None | 0.999 | N | 0.572 | 0.384 | 0.307648195649 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82673E-05 | 0 | None | 0 | 0 | 8.99426E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.3332 | likely_benign | 0.356 | ambiguous | -0.457 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| H/C | 0.158 | likely_benign | 0.158 | benign | 0.48 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| H/D | 0.4838 | ambiguous | 0.5825 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.482555287 | None | None | N |
| H/E | 0.6976 | likely_pathogenic | 0.7582 | pathogenic | -0.398 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | N |
| H/F | 0.3346 | likely_benign | 0.3551 | ambiguous | 0.721 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| H/G | 0.3812 | ambiguous | 0.4208 | ambiguous | -0.819 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| H/I | 0.5976 | likely_pathogenic | 0.6453 | pathogenic | 0.535 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| H/K | 0.7911 | likely_pathogenic | 0.8341 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| H/L | 0.4041 | ambiguous | 0.4295 | ambiguous | 0.535 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.480995062 | None | None | N |
| H/M | 0.7175 | likely_pathogenic | 0.7477 | pathogenic | 0.419 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| H/N | 0.1786 | likely_benign | 0.1985 | benign | -0.367 | Destabilizing | 0.999 | D | 0.554 | neutral | N | 0.463796168 | None | None | N |
| H/P | 0.113 | likely_benign | 0.1008 | benign | 0.226 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.425965712 | None | None | N |
| H/Q | 0.4948 | ambiguous | 0.536 | ambiguous | -0.118 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.482035212 | None | None | N |
| H/R | 0.4976 | ambiguous | 0.5524 | ambiguous | -1.026 | Destabilizing | 1.0 | D | 0.61 | neutral | N | 0.481861854 | None | None | N |
| H/S | 0.2518 | likely_benign | 0.2815 | benign | -0.257 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| H/T | 0.4379 | ambiguous | 0.4855 | ambiguous | -0.072 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| H/V | 0.5185 | ambiguous | 0.5543 | ambiguous | 0.226 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| H/W | 0.5584 | ambiguous | 0.5709 | pathogenic | 0.901 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| H/Y | 0.1226 | likely_benign | 0.1258 | benign | 1.017 | Stabilizing | 0.999 | D | 0.572 | neutral | N | 0.438148362 | 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.