Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17314 | 52165;52166;52167 | chr2:178609370;178609369;178609368 | chr2:179474097;179474096;179474095 |
| N2AB | 15673 | 47242;47243;47244 | chr2:178609370;178609369;178609368 | chr2:179474097;179474096;179474095 |
| N2A | 14746 | 44461;44462;44463 | chr2:178609370;178609369;178609368 | chr2:179474097;179474096;179474095 |
| N2B | 8249 | 24970;24971;24972 | chr2:178609370;178609369;178609368 | chr2:179474097;179474096;179474095 |
| Novex-1 | 8374 | 25345;25346;25347 | chr2:178609370;178609369;178609368 | chr2:179474097;179474096;179474095 |
| Novex-2 | 8441 | 25546;25547;25548 | chr2:178609370;178609369;178609368 | chr2:179474097;179474096;179474095 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | None | None | 0.971 | N | 0.701 | 0.272 | 0.388010793773 | gnomAD-4.0.0 | 6.84811E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00017E-07 | 0 | 0 |
| F/L | None | None | 0.822 | N | 0.663 | 0.193 | 0.219573609325 | gnomAD-4.0.0 | 6.84811E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00017E-07 | 0 | 0 |
| F/S | None | None | 0.89 | N | 0.735 | 0.248 | 0.561332866315 | gnomAD-4.0.0 | 1.59451E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86367E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.2744 | likely_benign | 0.3372 | benign | -0.706 | Destabilizing | 0.754 | D | 0.713 | prob.delet. | None | None | None | None | N |
| F/C | 0.3148 | likely_benign | 0.3639 | ambiguous | -0.403 | Destabilizing | 0.997 | D | 0.737 | prob.delet. | N | 0.520836821 | None | None | N |
| F/D | 0.4635 | ambiguous | 0.5048 | ambiguous | 0.408 | Stabilizing | 0.956 | D | 0.772 | deleterious | None | None | None | None | N |
| F/E | 0.4887 | ambiguous | 0.5365 | ambiguous | 0.38 | Stabilizing | 0.915 | D | 0.756 | deleterious | None | None | None | None | N |
| F/G | 0.5256 | ambiguous | 0.6085 | pathogenic | -0.837 | Destabilizing | 0.956 | D | 0.749 | deleterious | None | None | None | None | N |
| F/H | 0.4707 | ambiguous | 0.5013 | ambiguous | 0.286 | Stabilizing | 0.994 | D | 0.713 | prob.delet. | None | None | None | None | N |
| F/I | 0.1648 | likely_benign | 0.1944 | benign | -0.391 | Destabilizing | 0.971 | D | 0.701 | prob.neutral | N | 0.519623313 | None | None | N |
| F/K | 0.6441 | likely_pathogenic | 0.7074 | pathogenic | -0.148 | Destabilizing | 0.915 | D | 0.756 | deleterious | None | None | None | None | N |
| F/L | 0.7262 | likely_pathogenic | 0.7771 | pathogenic | -0.391 | Destabilizing | 0.822 | D | 0.663 | neutral | N | 0.499650686 | None | None | N |
| F/M | 0.4023 | ambiguous | 0.4574 | ambiguous | -0.543 | Destabilizing | 0.978 | D | 0.683 | prob.neutral | None | None | None | None | N |
| F/N | 0.4176 | ambiguous | 0.4622 | ambiguous | -0.241 | Destabilizing | 0.956 | D | 0.775 | deleterious | None | None | None | None | N |
| F/P | 0.6656 | likely_pathogenic | 0.6992 | pathogenic | -0.48 | Destabilizing | 0.978 | D | 0.773 | deleterious | None | None | None | None | N |
| F/Q | 0.554 | ambiguous | 0.6135 | pathogenic | -0.235 | Destabilizing | 0.16 | N | 0.506 | neutral | None | None | None | None | N |
| F/R | 0.5528 | ambiguous | 0.601 | pathogenic | 0.146 | Stabilizing | 0.915 | D | 0.778 | deleterious | None | None | None | None | N |
| F/S | 0.237 | likely_benign | 0.2703 | benign | -0.72 | Destabilizing | 0.89 | D | 0.735 | prob.delet. | N | 0.519623313 | None | None | N |
| F/T | 0.2661 | likely_benign | 0.3237 | benign | -0.665 | Destabilizing | 0.956 | D | 0.739 | prob.delet. | None | None | None | None | N |
| F/V | 0.1559 | likely_benign | 0.1796 | benign | -0.48 | Destabilizing | 0.822 | D | 0.745 | deleterious | N | 0.519276596 | None | None | N |
| F/W | 0.4235 | ambiguous | 0.4484 | ambiguous | -0.429 | Destabilizing | 0.998 | D | 0.66 | neutral | None | None | None | None | N |
| F/Y | 0.1483 | likely_benign | 0.1533 | benign | -0.387 | Destabilizing | 0.904 | D | 0.638 | neutral | N | 0.463500671 | 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.