Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33753 | 101482;101483;101484 | chr2:178535358;178535357;178535356 | chr2:179400085;179400084;179400083 |
| N2AB | 32112 | 96559;96560;96561 | chr2:178535358;178535357;178535356 | chr2:179400085;179400084;179400083 |
| N2A | 31185 | 93778;93779;93780 | chr2:178535358;178535357;178535356 | chr2:179400085;179400084;179400083 |
| N2B | 24688 | 74287;74288;74289 | chr2:178535358;178535357;178535356 | chr2:179400085;179400084;179400083 |
| Novex-1 | 24813 | 74662;74663;74664 | chr2:178535358;178535357;178535356 | chr2:179400085;179400084;179400083 |
| Novex-2 | 24880 | 74863;74864;74865 | chr2:178535358;178535357;178535356 | chr2:179400085;179400084;179400083 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 1.0 | N | 0.671 | 0.542 | 0.680116873462 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 8.99428E-07 | 0 | 0 |
| F/S | rs764462637  |
-0.975 | 1.0 | N | 0.657 | 0.53 | 0.60538619643 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.32E-05 | 0 |
| F/S | rs764462637 |
-0.975 | 1.0 | N | 0.657 | 0.53 | 0.60538619643 | gnomAD-4.0.0 | 9.57847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07931E-05 | 0 | 3.31268E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9021 | likely_pathogenic | 0.8975 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.583 | neutral | None | None | None | None | N |
| F/C | 0.852 | likely_pathogenic | 0.848 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.465743182 | None | None | N |
| F/D | 0.976 | likely_pathogenic | 0.9782 | pathogenic | 0.654 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| F/E | 0.9779 | likely_pathogenic | 0.9793 | pathogenic | 0.679 | Stabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| F/G | 0.9611 | likely_pathogenic | 0.959 | pathogenic | -1.528 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| F/H | 0.8796 | likely_pathogenic | 0.8908 | pathogenic | 0.075 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| F/I | 0.8398 | likely_pathogenic | 0.8436 | pathogenic | -0.673 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.397171318 | None | None | N |
| F/K | 0.9728 | likely_pathogenic | 0.9718 | pathogenic | -0.431 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| F/L | 0.975 | likely_pathogenic | 0.9737 | pathogenic | -0.673 | Destabilizing | 0.996 | D | 0.479 | neutral | N | 0.428992948 | None | None | N |
| F/M | 0.8935 | likely_pathogenic | 0.8927 | pathogenic | -0.637 | Destabilizing | 0.998 | D | 0.724 | prob.delet. | None | None | None | None | N |
| F/N | 0.9246 | likely_pathogenic | 0.9333 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| F/P | 0.9891 | likely_pathogenic | 0.986 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| F/Q | 0.9413 | likely_pathogenic | 0.9441 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| F/R | 0.9186 | likely_pathogenic | 0.9197 | pathogenic | 0.04 | Stabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| F/S | 0.8395 | likely_pathogenic | 0.848 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.409676469 | None | None | N |
| F/T | 0.8993 | likely_pathogenic | 0.9065 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| F/V | 0.8148 | likely_pathogenic | 0.8214 | pathogenic | -0.867 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.396651243 | None | None | N |
| F/W | 0.7277 | likely_pathogenic | 0.7172 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| F/Y | 0.4077 | ambiguous | 0.4287 | ambiguous | -0.333 | Destabilizing | 0.992 | D | 0.477 | neutral | N | 0.468186054 | 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.