Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17505 | 52738;52739;52740 | chr2:178608370;178608369;178608368 | chr2:179473097;179473096;179473095 |
| N2AB | 15864 | 47815;47816;47817 | chr2:178608370;178608369;178608368 | chr2:179473097;179473096;179473095 |
| N2A | 14937 | 45034;45035;45036 | chr2:178608370;178608369;178608368 | chr2:179473097;179473096;179473095 |
| N2B | 8440 | 25543;25544;25545 | chr2:178608370;178608369;178608368 | chr2:179473097;179473096;179473095 |
| Novex-1 | 8565 | 25918;25919;25920 | chr2:178608370;178608369;178608368 | chr2:179473097;179473096;179473095 |
| Novex-2 | 8632 | 26119;26120;26121 | chr2:178608370;178608369;178608368 | chr2:179473097;179473096;179473095 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1160660090  |
-1.351 | 0.999 | N | 0.707 | 0.383 | 0.298403945805 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.69E-05 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs1160660090 |
-1.351 | 0.999 | N | 0.707 | 0.383 | 0.298403945805 | gnomAD-4.0.0 | 1.59558E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79595E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9497 | likely_pathogenic | 0.9431 | pathogenic | -3.578 | Highly Destabilizing | 0.993 | D | 0.712 | prob.delet. | None | None | None | None | N |
| W/C | 0.8783 | likely_pathogenic | 0.8805 | pathogenic | -1.703 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.491332273 | None | None | N |
| W/D | 0.994 | likely_pathogenic | 0.9926 | pathogenic | -2.665 | Highly Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
| W/E | 0.989 | likely_pathogenic | 0.9858 | pathogenic | -2.587 | Highly Destabilizing | 0.998 | D | 0.74 | deleterious | None | None | None | None | N |
| W/F | 0.3485 | ambiguous | 0.3499 | ambiguous | -2.281 | Highly Destabilizing | 0.06 | N | 0.455 | neutral | None | None | None | None | N |
| W/G | 0.9435 | likely_pathogenic | 0.9382 | pathogenic | -3.776 | Highly Destabilizing | 0.991 | D | 0.695 | prob.neutral | N | 0.472152025 | None | None | N |
| W/H | 0.7284 | likely_pathogenic | 0.7209 | pathogenic | -2.109 | Highly Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | N |
| W/I | 0.6869 | likely_pathogenic | 0.6429 | pathogenic | -2.815 | Highly Destabilizing | 0.973 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/K | 0.9825 | likely_pathogenic | 0.9793 | pathogenic | -2.109 | Highly Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/L | 0.6482 | likely_pathogenic | 0.6269 | pathogenic | -2.815 | Highly Destabilizing | 0.885 | D | 0.656 | neutral | N | 0.451965808 | None | None | N |
| W/M | 0.8721 | likely_pathogenic | 0.8552 | pathogenic | -2.14 | Highly Destabilizing | 0.998 | D | 0.696 | prob.neutral | None | None | None | None | N |
| W/N | 0.9652 | likely_pathogenic | 0.9614 | pathogenic | -2.487 | Highly Destabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/P | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -3.094 | Highly Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9658 | likely_pathogenic | 0.9602 | pathogenic | -2.516 | Highly Destabilizing | 0.998 | D | 0.724 | prob.delet. | None | None | None | None | N |
| W/R | 0.9489 | likely_pathogenic | 0.9411 | pathogenic | -1.433 | Destabilizing | 0.997 | D | 0.735 | prob.delet. | N | 0.457947631 | None | None | N |
| W/S | 0.8788 | likely_pathogenic | 0.8712 | pathogenic | -2.88 | Highly Destabilizing | 0.991 | D | 0.735 | prob.delet. | N | 0.464489601 | None | None | N |
| W/T | 0.917 | likely_pathogenic | 0.9013 | pathogenic | -2.753 | Highly Destabilizing | 0.993 | D | 0.716 | prob.delet. | None | None | None | None | N |
| W/V | 0.732 | likely_pathogenic | 0.7056 | pathogenic | -3.094 | Highly Destabilizing | 0.986 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/Y | 0.5069 | ambiguous | 0.4859 | ambiguous | -2.089 | Highly Destabilizing | 0.91 | D | 0.559 | 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.