Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33172 | 99739;99740;99741 | chr2:178537693;178537692;178537691 | chr2:179402420;179402419;179402418 |
| N2AB | 31531 | 94816;94817;94818 | chr2:178537693;178537692;178537691 | chr2:179402420;179402419;179402418 |
| N2A | 30604 | 92035;92036;92037 | chr2:178537693;178537692;178537691 | chr2:179402420;179402419;179402418 |
| N2B | 24107 | 72544;72545;72546 | chr2:178537693;178537692;178537691 | chr2:179402420;179402419;179402418 |
| Novex-1 | 24232 | 72919;72920;72921 | chr2:178537693;178537692;178537691 | chr2:179402420;179402419;179402418 |
| Novex-2 | 24299 | 73120;73121;73122 | chr2:178537693;178537692;178537691 | chr2:179402420;179402419;179402418 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 1.0 | N | 0.766 | 0.449 | 0.519837540645 | gnomAD-4.0.0 | 6.84231E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99473E-07 | 0 | 0 |
| T/S | None | None | 0.998 | N | 0.569 | 0.371 | 0.247322355667 | gnomAD-4.0.0 | 6.84231E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99473E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1643 | likely_benign | 0.1815 | benign | -1.212 | Destabilizing | 0.998 | D | 0.585 | neutral | N | 0.469382732 | None | None | N |
| T/C | 0.5265 | ambiguous | 0.5702 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/D | 0.7797 | likely_pathogenic | 0.797 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| T/E | 0.637 | likely_pathogenic | 0.635 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/F | 0.4841 | ambiguous | 0.5395 | ambiguous | -0.889 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| T/G | 0.5036 | ambiguous | 0.5394 | ambiguous | -1.645 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/H | 0.3223 | likely_benign | 0.3051 | benign | -1.6 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| T/I | 0.3188 | likely_benign | 0.3664 | ambiguous | -0.054 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.456367358 | None | None | N |
| T/K | 0.3045 | likely_benign | 0.2657 | benign | -0.083 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| T/L | 0.2186 | likely_benign | 0.2684 | benign | -0.054 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| T/M | 0.1564 | likely_benign | 0.1884 | benign | -0.115 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/N | 0.2519 | likely_benign | 0.257 | benign | -0.87 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.476486303 | None | None | N |
| T/P | 0.9375 | likely_pathogenic | 0.9547 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.501591997 | None | None | N |
| T/Q | 0.334 | likely_benign | 0.3222 | benign | -0.6 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| T/R | 0.2244 | likely_benign | 0.2161 | benign | -0.4 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| T/S | 0.1576 | likely_benign | 0.1579 | benign | -1.179 | Destabilizing | 0.998 | D | 0.569 | neutral | N | 0.446783701 | None | None | N |
| T/V | 0.2453 | likely_benign | 0.2638 | benign | -0.41 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| T/W | 0.8404 | likely_pathogenic | 0.8695 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| T/Y | 0.4981 | ambiguous | 0.5275 | ambiguous | -0.594 | Destabilizing | 1.0 | D | 0.835 | 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.