Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24341 | 73246;73247;73248 | chr2:178573111;178573110;178573109 | chr2:179437838;179437837;179437836 |
| N2AB | 22700 | 68323;68324;68325 | chr2:178573111;178573110;178573109 | chr2:179437838;179437837;179437836 |
| N2A | 21773 | 65542;65543;65544 | chr2:178573111;178573110;178573109 | chr2:179437838;179437837;179437836 |
| N2B | 15276 | 46051;46052;46053 | chr2:178573111;178573110;178573109 | chr2:179437838;179437837;179437836 |
| Novex-1 | 15401 | 46426;46427;46428 | chr2:178573111;178573110;178573109 | chr2:179437838;179437837;179437836 |
| Novex-2 | 15468 | 46627;46628;46629 | chr2:178573111;178573110;178573109 | chr2:179437838;179437837;179437836 |
| 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/A | rs1397935154  |
-0.986 | 0.309 | D | 0.467 | 0.113 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/A | rs1397935154 |
-0.986 | 0.309 | D | 0.467 | 0.113 | None | 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/A | rs1397935154 |
-0.986 | 0.309 | D | 0.467 | 0.113 | None | gnomAD-4.0.0 | 2.56383E-06 | None | None | None | None | N | None | 3.38478E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs568799517 |
None | 0.521 | N | 0.663 | 0.404 | 0.563619085548 | gnomAD-4.0.0 | 1.3688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.31455E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1281 | likely_benign | 0.1231 | benign | -0.882 | Destabilizing | 0.309 | N | 0.467 | neutral | D | 0.522887331 | None | None | N |
| S/C | 0.1568 | likely_benign | 0.1529 | benign | -0.769 | Destabilizing | 0.996 | D | 0.658 | neutral | None | None | None | None | N |
| S/D | 0.6782 | likely_pathogenic | 0.6765 | pathogenic | -0.57 | Destabilizing | 0.009 | N | 0.301 | neutral | None | None | None | None | N |
| S/E | 0.7688 | likely_pathogenic | 0.7611 | pathogenic | -0.519 | Destabilizing | 0.59 | D | 0.607 | neutral | None | None | None | None | N |
| S/F | 0.414 | ambiguous | 0.4147 | ambiguous | -0.977 | Destabilizing | 0.953 | D | 0.669 | neutral | None | None | None | None | N |
| S/G | 0.2089 | likely_benign | 0.2032 | benign | -1.167 | Destabilizing | 0.543 | D | 0.577 | neutral | None | None | None | None | N |
| S/H | 0.5193 | ambiguous | 0.5132 | ambiguous | -1.56 | Destabilizing | 0.996 | D | 0.661 | neutral | None | None | None | None | N |
| S/I | 0.3232 | likely_benign | 0.3232 | benign | -0.213 | Destabilizing | 0.91 | D | 0.684 | prob.neutral | None | None | None | None | N |
| S/K | 0.8824 | likely_pathogenic | 0.881 | pathogenic | -0.601 | Destabilizing | 0.742 | D | 0.639 | neutral | None | None | None | None | N |
| S/L | 0.1967 | likely_benign | 0.1873 | benign | -0.213 | Destabilizing | 0.521 | D | 0.663 | neutral | N | 0.470634769 | None | None | N |
| S/M | 0.2477 | likely_benign | 0.2378 | benign | -0.04 | Destabilizing | 0.996 | D | 0.661 | neutral | None | None | None | None | N |
| S/N | 0.2578 | likely_benign | 0.2523 | benign | -0.763 | Destabilizing | 0.59 | D | 0.641 | neutral | None | None | None | None | N |
| S/P | 0.9687 | likely_pathogenic | 0.9628 | pathogenic | -0.402 | Destabilizing | 0.939 | D | 0.711 | prob.delet. | N | 0.501300325 | None | None | N |
| S/Q | 0.6614 | likely_pathogenic | 0.6505 | pathogenic | -0.87 | Destabilizing | 0.953 | D | 0.673 | neutral | None | None | None | None | N |
| S/R | 0.8248 | likely_pathogenic | 0.8267 | pathogenic | -0.583 | Destabilizing | 0.91 | D | 0.708 | prob.delet. | None | None | None | None | N |
| S/T | 0.0688 | likely_benign | 0.0687 | benign | -0.74 | Destabilizing | 0.004 | N | 0.285 | neutral | N | 0.414775644 | None | None | N |
| S/V | 0.2815 | likely_benign | 0.277 | benign | -0.402 | Destabilizing | 0.59 | D | 0.658 | neutral | None | None | None | None | N |
| S/W | 0.6179 | likely_pathogenic | 0.6222 | pathogenic | -0.948 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/Y | 0.4142 | ambiguous | 0.409 | ambiguous | -0.648 | Destabilizing | 0.984 | D | 0.649 | 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.