Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27106 | 81541;81542;81543 | chr2:178564816;178564815;178564814 | chr2:179429543;179429542;179429541 |
| N2AB | 25465 | 76618;76619;76620 | chr2:178564816;178564815;178564814 | chr2:179429543;179429542;179429541 |
| N2A | 24538 | 73837;73838;73839 | chr2:178564816;178564815;178564814 | chr2:179429543;179429542;179429541 |
| N2B | 18041 | 54346;54347;54348 | chr2:178564816;178564815;178564814 | chr2:179429543;179429542;179429541 |
| Novex-1 | 18166 | 54721;54722;54723 | chr2:178564816;178564815;178564814 | chr2:179429543;179429542;179429541 |
| Novex-2 | 18233 | 54922;54923;54924 | chr2:178564816;178564815;178564814 | chr2:179429543;179429542;179429541 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs577183624  |
-0.113 | 1.0 | N | 0.599 | 0.478 | 0.489449420884 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| G/A | rs577183624 |
-0.113 | 1.0 | N | 0.599 | 0.478 | 0.489449420884 | gnomAD-4.0.0 | 2.05379E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.48076E-05 | 0 |
| G/D | rs577183624 |
-1.872 | 1.0 | N | 0.845 | 0.531 | 0.566193126947 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | N | None | 1.3009E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs577183624 |
-1.872 | 1.0 | N | 0.845 | 0.531 | 0.566193126947 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 1.44865E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs577183624 |
-1.872 | 1.0 | N | 0.845 | 0.531 | 0.566193126947 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/D | rs577183624 |
-1.872 | 1.0 | N | 0.845 | 0.531 | 0.566193126947 | gnomAD-4.0.0 | 6.19996E-06 | None | None | None | None | N | None | 1.33372E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3915 | ambiguous | 0.3727 | ambiguous | -0.869 | Destabilizing | 1.0 | D | 0.599 | neutral | N | 0.496962367 | None | None | N |
| G/C | 0.6307 | likely_pathogenic | 0.5913 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.525399423 | None | None | N |
| G/D | 0.9773 | likely_pathogenic | 0.9605 | pathogenic | -2.394 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.508736746 | None | None | N |
| G/E | 0.9842 | likely_pathogenic | 0.9769 | pathogenic | -2.243 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/F | 0.9763 | likely_pathogenic | 0.9718 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/H | 0.9549 | likely_pathogenic | 0.9423 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/I | 0.9821 | likely_pathogenic | 0.9778 | pathogenic | 0.077 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/K | 0.9875 | likely_pathogenic | 0.9847 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/L | 0.9733 | likely_pathogenic | 0.9651 | pathogenic | 0.077 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/M | 0.9808 | likely_pathogenic | 0.9769 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/N | 0.9288 | likely_pathogenic | 0.8793 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/Q | 0.9555 | likely_pathogenic | 0.9423 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/R | 0.9367 | likely_pathogenic | 0.9214 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.492492142 | None | None | N |
| G/S | 0.352 | ambiguous | 0.2997 | benign | -1.663 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.493048346 | None | None | N |
| G/T | 0.8658 | likely_pathogenic | 0.8434 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/V | 0.9572 | likely_pathogenic | 0.9482 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.535488281 | None | None | N |
| G/W | 0.9562 | likely_pathogenic | 0.9391 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/Y | 0.946 | likely_pathogenic | 0.9309 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.845 | 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.