Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2778 | 8557;8558;8559 | chr2:178770460;178770459;178770458 | chr2:179635187;179635186;179635185 |
| N2AB | 2778 | 8557;8558;8559 | chr2:178770460;178770459;178770458 | chr2:179635187;179635186;179635185 |
| N2A | 2778 | 8557;8558;8559 | chr2:178770460;178770459;178770458 | chr2:179635187;179635186;179635185 |
| N2B | 2732 | 8419;8420;8421 | chr2:178770460;178770459;178770458 | chr2:179635187;179635186;179635185 |
| Novex-1 | 2732 | 8419;8420;8421 | chr2:178770460;178770459;178770458 | chr2:179635187;179635186;179635185 |
| Novex-2 | 2732 | 8419;8420;8421 | chr2:178770460;178770459;178770458 | chr2:179635187;179635186;179635185 |
| Novex-3 | 2778 | 8557;8558;8559 | chr2:178770460;178770459;178770458 | chr2:179635187;179635186;179635185 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs767274457  |
None | 0.64 | N | 0.609 | 0.39 | 0.47282010386 | gnomAD-4.0.0 | 6.84073E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99294E-07 | 0 | 0 |
| G/D | None | -1.053 | 0.811 | D | 0.688 | 0.547 | 0.619048737305 | gnomAD-2.1.1 | 1.59E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30659E-04 | None | 0 | 0 | 0 |
| G/D | None | -1.053 | 0.811 | D | 0.688 | 0.547 | 0.619048737305 | gnomAD-4.0.0 | 6.84073E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69788E-06 | 8.11519E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0989 | likely_benign | 0.1262 | benign | 0.201 | Stabilizing | 0.64 | D | 0.609 | neutral | N | 0.517589979 | None | None | N |
| G/C | 0.2089 | likely_benign | 0.2682 | benign | 0.197 | Stabilizing | 0.999 | D | 0.767 | deleterious | D | 0.544932192 | None | None | N |
| G/D | 0.5395 | ambiguous | 0.6689 | pathogenic | -0.921 | Destabilizing | 0.811 | D | 0.688 | prob.neutral | D | 0.544753218 | None | None | N |
| G/E | 0.4812 | ambiguous | 0.626 | pathogenic | -0.683 | Destabilizing | 0.919 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/F | 0.6887 | likely_pathogenic | 0.7822 | pathogenic | 0.029 | Stabilizing | 0.996 | D | 0.8 | deleterious | None | None | None | None | N |
| G/H | 0.5427 | ambiguous | 0.6419 | pathogenic | -1.122 | Destabilizing | 0.997 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/I | 0.2755 | likely_benign | 0.3639 | ambiguous | 1.4 | Stabilizing | 0.988 | D | 0.793 | deleterious | None | None | None | None | N |
| G/K | 0.7716 | likely_pathogenic | 0.8637 | pathogenic | 0.177 | Stabilizing | 0.976 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/L | 0.4633 | ambiguous | 0.5833 | pathogenic | 1.4 | Stabilizing | 0.976 | D | 0.745 | deleterious | None | None | None | None | N |
| G/M | 0.4834 | ambiguous | 0.59 | pathogenic | 0.935 | Stabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| G/N | 0.3641 | ambiguous | 0.4238 | ambiguous | -0.247 | Destabilizing | 0.261 | N | 0.404 | neutral | None | None | None | None | N |
| G/P | 0.9879 | likely_pathogenic | 0.9939 | pathogenic | 1.042 | Stabilizing | 0.988 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/Q | 0.5076 | ambiguous | 0.601 | pathogenic | 0.13 | Stabilizing | 0.988 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/R | 0.5922 | likely_pathogenic | 0.6947 | pathogenic | -0.531 | Destabilizing | 0.968 | D | 0.74 | deleterious | N | 0.514672242 | None | None | N |
| G/S | 0.0697 | likely_benign | 0.0768 | benign | -0.558 | Destabilizing | 0.046 | N | 0.305 | neutral | N | 0.411022383 | None | None | N |
| G/T | 0.1125 | likely_benign | 0.1449 | benign | -0.164 | Destabilizing | 0.851 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/V | 0.1942 | likely_benign | 0.2604 | benign | 1.042 | Stabilizing | 0.968 | D | 0.767 | deleterious | N | 0.511873613 | None | None | N |
| G/W | 0.634 | likely_pathogenic | 0.7288 | pathogenic | -0.784 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5562 | ambiguous | 0.6771 | pathogenic | -0.015 | Destabilizing | 0.996 | D | 0.8 | deleterious | 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.