Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2861 | 8806;8807;8808 | chr2:178770120;178770119;178770118 | chr2:179634847;179634846;179634845 |
| N2AB | 2861 | 8806;8807;8808 | chr2:178770120;178770119;178770118 | chr2:179634847;179634846;179634845 |
| N2A | 2861 | 8806;8807;8808 | chr2:178770120;178770119;178770118 | chr2:179634847;179634846;179634845 |
| N2B | 2815 | 8668;8669;8670 | chr2:178770120;178770119;178770118 | chr2:179634847;179634846;179634845 |
| Novex-1 | 2815 | 8668;8669;8670 | chr2:178770120;178770119;178770118 | chr2:179634847;179634846;179634845 |
| Novex-2 | 2815 | 8668;8669;8670 | chr2:178770120;178770119;178770118 | chr2:179634847;179634846;179634845 |
| Novex-3 | 2861 | 8806;8807;8808 | chr2:178770120;178770119;178770118 | chr2:179634847;179634846;179634845 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1383547916  |
None | 0.689 | N | 0.32 | 0.224 | 0.242244723065 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | rs1383547916 |
None | 0.689 | N | 0.32 | 0.224 | 0.242244723065 | gnomAD-4.0.0 | 4.05965E-06 | None | None | None | None | N | None | 1.74697E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61472E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6116 | likely_pathogenic | 0.6642 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.542 | neutral | None | None | None | None | N |
| A/D | 0.5701 | likely_pathogenic | 0.5705 | pathogenic | -1.171 | Destabilizing | 0.151 | N | 0.393 | neutral | N | 0.507384071 | None | None | N |
| A/E | 0.4131 | ambiguous | 0.417 | ambiguous | -1.217 | Destabilizing | 0.942 | D | 0.593 | neutral | None | None | None | None | N |
| A/F | 0.6008 | likely_pathogenic | 0.6295 | pathogenic | -1.137 | Destabilizing | 0.996 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/G | 0.206 | likely_benign | 0.2391 | benign | -1.183 | Destabilizing | 0.961 | D | 0.487 | neutral | D | 0.576374509 | None | None | N |
| A/H | 0.7115 | likely_pathogenic | 0.745 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| A/I | 0.4825 | ambiguous | 0.4754 | ambiguous | -0.417 | Destabilizing | 0.983 | D | 0.627 | neutral | None | None | None | None | N |
| A/K | 0.7022 | likely_pathogenic | 0.7072 | pathogenic | -1.177 | Destabilizing | 0.991 | D | 0.623 | neutral | None | None | None | None | N |
| A/L | 0.4175 | ambiguous | 0.438 | ambiguous | -0.417 | Destabilizing | 0.942 | D | 0.559 | neutral | None | None | None | None | N |
| A/M | 0.3523 | ambiguous | 0.3619 | ambiguous | -0.255 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| A/N | 0.4585 | ambiguous | 0.4941 | ambiguous | -0.865 | Destabilizing | 0.991 | D | 0.68 | prob.neutral | None | None | None | None | N |
| A/P | 0.9242 | likely_pathogenic | 0.9424 | pathogenic | -0.549 | Destabilizing | 0.994 | D | 0.673 | neutral | D | 0.658584594 | None | None | N |
| A/Q | 0.4916 | ambiguous | 0.5116 | ambiguous | -1.045 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | None | N |
| A/R | 0.6006 | likely_pathogenic | 0.6121 | pathogenic | -0.801 | Destabilizing | 0.996 | D | 0.681 | prob.neutral | None | None | None | None | N |
| A/S | 0.0999 | likely_benign | 0.1129 | benign | -1.21 | Destabilizing | 0.689 | D | 0.32 | neutral | N | 0.490751724 | None | None | N |
| A/T | 0.1349 | likely_benign | 0.1463 | benign | -1.16 | Destabilizing | 0.925 | D | 0.498 | neutral | D | 0.533288257 | None | None | N |
| A/V | 0.2537 | likely_benign | 0.2546 | benign | -0.549 | Destabilizing | 0.433 | N | 0.315 | neutral | N | 0.514279603 | None | None | N |
| A/W | 0.9316 | likely_pathogenic | 0.9432 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| A/Y | 0.7506 | likely_pathogenic | 0.7767 | pathogenic | -1.067 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | 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.