Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25435 | 76528;76529;76530 | chr2:178569829;178569828;178569827 | chr2:179434556;179434555;179434554 |
| N2AB | 23794 | 71605;71606;71607 | chr2:178569829;178569828;178569827 | chr2:179434556;179434555;179434554 |
| N2A | 22867 | 68824;68825;68826 | chr2:178569829;178569828;178569827 | chr2:179434556;179434555;179434554 |
| N2B | 16370 | 49333;49334;49335 | chr2:178569829;178569828;178569827 | chr2:179434556;179434555;179434554 |
| Novex-1 | 16495 | 49708;49709;49710 | chr2:178569829;178569828;178569827 | chr2:179434556;179434555;179434554 |
| Novex-2 | 16562 | 49909;49910;49911 | chr2:178569829;178569828;178569827 | chr2:179434556;179434555;179434554 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs1329731754  |
-1.752 | 0.338 | N | 0.661 | 0.233 | 0.506734346222 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/G | rs1329731754 |
-1.752 | 0.338 | N | 0.661 | 0.233 | 0.506734346222 | gnomAD-4.0.0 | 1.59187E-06 | None | None | None | None | I | None | 0 | 2.28686E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs767496380 |
-1.271 | 0.879 | N | 0.706 | 0.339 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/Y | rs767496380 |
-1.271 | 0.879 | N | 0.706 | 0.339 | None | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.21 | likely_benign | 0.1918 | benign | -1.123 | Destabilizing | 0.218 | N | 0.558 | neutral | None | None | None | None | I |
| C/D | 0.504 | ambiguous | 0.5548 | ambiguous | 0.044 | Stabilizing | 0.826 | D | 0.719 | prob.delet. | None | None | None | None | I |
| C/E | 0.6939 | likely_pathogenic | 0.7248 | pathogenic | 0.043 | Stabilizing | 0.704 | D | 0.719 | prob.delet. | None | None | None | None | I |
| C/F | 0.2148 | likely_benign | 0.2179 | benign | -0.898 | Destabilizing | 0.879 | D | 0.692 | prob.neutral | N | 0.52015367 | None | None | I |
| C/G | 0.1118 | likely_benign | 0.1049 | benign | -1.323 | Destabilizing | 0.338 | N | 0.661 | neutral | N | 0.446842416 | None | None | I |
| C/H | 0.4492 | ambiguous | 0.4511 | ambiguous | -1.345 | Destabilizing | 0.973 | D | 0.72 | prob.delet. | None | None | None | None | I |
| C/I | 0.5313 | ambiguous | 0.5245 | ambiguous | -0.66 | Destabilizing | 0.826 | D | 0.645 | neutral | None | None | None | None | I |
| C/K | 0.7449 | likely_pathogenic | 0.7441 | pathogenic | -0.357 | Destabilizing | 0.704 | D | 0.718 | prob.delet. | None | None | None | None | I |
| C/L | 0.3456 | ambiguous | 0.3319 | benign | -0.66 | Destabilizing | 0.575 | D | 0.597 | neutral | None | None | None | None | I |
| C/M | 0.4701 | ambiguous | 0.4499 | ambiguous | 0.028 | Stabilizing | 0.991 | D | 0.633 | neutral | None | None | None | None | I |
| C/N | 0.3291 | likely_benign | 0.3314 | benign | -0.017 | Destabilizing | 0.704 | D | 0.72 | prob.delet. | None | None | None | None | I |
| C/P | 0.9775 | likely_pathogenic | 0.976 | pathogenic | -0.79 | Destabilizing | 0.906 | D | 0.723 | prob.delet. | None | None | None | None | I |
| C/Q | 0.5355 | ambiguous | 0.5469 | ambiguous | -0.175 | Destabilizing | 0.826 | D | 0.723 | prob.delet. | None | None | None | None | I |
| C/R | 0.472 | ambiguous | 0.4707 | ambiguous | -0.029 | Destabilizing | 0.782 | D | 0.724 | prob.delet. | N | 0.458102347 | None | None | I |
| C/S | 0.1105 | likely_benign | 0.0992 | benign | -0.525 | Destabilizing | 0.001 | N | 0.431 | neutral | N | 0.379486847 | None | None | I |
| C/T | 0.2929 | likely_benign | 0.2736 | benign | -0.387 | Destabilizing | 0.404 | N | 0.596 | neutral | None | None | None | None | I |
| C/V | 0.4164 | ambiguous | 0.4143 | ambiguous | -0.79 | Destabilizing | 0.575 | D | 0.626 | neutral | None | None | None | None | I |
| C/W | 0.4677 | ambiguous | 0.4605 | ambiguous | -0.814 | Destabilizing | 0.988 | D | 0.715 | prob.delet. | N | 0.485167399 | None | None | I |
| C/Y | 0.27 | likely_benign | 0.2776 | benign | -0.749 | Destabilizing | 0.879 | D | 0.706 | prob.neutral | N | 0.484913909 | 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.