Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15776 | 47551;47552;47553 | chr2:178618025;178618024;178618023 | chr2:179482752;179482751;179482750 |
| N2AB | 14135 | 42628;42629;42630 | chr2:178618025;178618024;178618023 | chr2:179482752;179482751;179482750 |
| N2A | 13208 | 39847;39848;39849 | chr2:178618025;178618024;178618023 | chr2:179482752;179482751;179482750 |
| N2B | 6711 | 20356;20357;20358 | chr2:178618025;178618024;178618023 | chr2:179482752;179482751;179482750 |
| Novex-1 | 6836 | 20731;20732;20733 | chr2:178618025;178618024;178618023 | chr2:179482752;179482751;179482750 |
| Novex-2 | 6903 | 20932;20933;20934 | chr2:178618025;178618024;178618023 | chr2:179482752;179482751;179482750 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs745354783  |
-0.216 | 0.27 | N | 0.587 | 0.325 | 0.437207349437 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/L | rs745354783 |
-0.216 | 0.27 | N | 0.587 | 0.325 | 0.437207349437 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs745354783 |
-0.216 | 0.27 | N | 0.587 | 0.325 | 0.437207349437 | gnomAD-4.0.0 | 6.58311E-06 | None | None | None | None | N | None | 2.41441E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1038 | likely_benign | 0.106 | benign | -0.865 | Destabilizing | 0.139 | N | 0.366 | neutral | N | 0.428181851 | None | None | N |
| S/C | 0.1506 | likely_benign | 0.1684 | benign | -0.832 | Destabilizing | 0.995 | D | 0.629 | neutral | None | None | None | None | N |
| S/D | 0.4842 | ambiguous | 0.4503 | ambiguous | -0.835 | Destabilizing | 0.704 | D | 0.516 | neutral | None | None | None | None | N |
| S/E | 0.5687 | likely_pathogenic | 0.5581 | ambiguous | -0.799 | Destabilizing | 0.495 | N | 0.459 | neutral | None | None | None | None | N |
| S/F | 0.2726 | likely_benign | 0.2776 | benign | -1.143 | Destabilizing | 0.944 | D | 0.629 | neutral | None | None | None | None | N |
| S/G | 0.1352 | likely_benign | 0.1462 | benign | -1.122 | Destabilizing | 0.495 | N | 0.459 | neutral | None | None | None | None | N |
| S/H | 0.3618 | ambiguous | 0.3445 | ambiguous | -1.631 | Destabilizing | 0.981 | D | 0.637 | neutral | None | None | None | None | N |
| S/I | 0.2126 | likely_benign | 0.2293 | benign | -0.274 | Destabilizing | 0.704 | D | 0.626 | neutral | None | None | None | None | N |
| S/K | 0.5935 | likely_pathogenic | 0.5842 | pathogenic | -0.648 | Destabilizing | 0.329 | N | 0.459 | neutral | None | None | None | None | N |
| S/L | 0.1428 | likely_benign | 0.1521 | benign | -0.274 | Destabilizing | 0.27 | N | 0.587 | neutral | N | 0.451407889 | None | None | N |
| S/M | 0.2266 | likely_benign | 0.2324 | benign | -0.015 | Destabilizing | 0.981 | D | 0.637 | neutral | None | None | None | None | N |
| S/N | 0.1576 | likely_benign | 0.1558 | benign | -0.845 | Destabilizing | 0.704 | D | 0.499 | neutral | None | None | None | None | N |
| S/P | 0.8389 | likely_pathogenic | 0.8681 | pathogenic | -0.438 | Destabilizing | 0.784 | D | 0.633 | neutral | N | 0.476988686 | None | None | N |
| S/Q | 0.4779 | ambiguous | 0.4697 | ambiguous | -1.001 | Destabilizing | 0.704 | D | 0.583 | neutral | None | None | None | None | N |
| S/R | 0.5262 | ambiguous | 0.5265 | ambiguous | -0.589 | Destabilizing | 0.007 | N | 0.459 | neutral | None | None | None | None | N |
| S/T | 0.0731 | likely_benign | 0.0732 | benign | -0.78 | Destabilizing | 0.003 | N | 0.265 | neutral | N | 0.335871194 | None | None | N |
| S/V | 0.2136 | likely_benign | 0.2252 | benign | -0.438 | Destabilizing | 0.329 | N | 0.607 | neutral | None | None | None | None | N |
| S/W | 0.4954 | ambiguous | 0.4981 | ambiguous | -1.131 | Destabilizing | 0.995 | D | 0.651 | neutral | None | None | None | None | N |
| S/Y | 0.2604 | likely_benign | 0.2624 | benign | -0.813 | Destabilizing | 0.981 | D | 0.622 | neutral | 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.