Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9709 | 29350;29351;29352 | chr2:178706871;178706870;178706869 | chr2:179571598;179571597;179571596 |
| N2AB | 9392 | 28399;28400;28401 | chr2:178706871;178706870;178706869 | chr2:179571598;179571597;179571596 |
| N2A | 8465 | 25618;25619;25620 | chr2:178706871;178706870;178706869 | chr2:179571598;179571597;179571596 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs369339313  |
-0.419 | 0.046 | None | 0.25 | 0.244 | None | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 4.17E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.59E-05 | 0 |
| V/I | rs369339313 |
-0.419 | 0.046 | None | 0.25 | 0.244 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs369339313 |
-0.419 | 0.046 | None | 0.25 | 0.244 | None | gnomAD-4.0.0 | 1.55098E-05 | None | None | None | None | N | None | 2.67044E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.95095E-05 | 0 | 0 |
| V/L | None | None | 0.76 | None | 0.423 | 0.322 | 0.55973633643 | gnomAD-4.0.0 | 6.85064E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52105E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.718 | likely_pathogenic | 0.426 | ambiguous | -1.864 | Destabilizing | 0.939 | D | 0.449 | neutral | None | None | None | None | N |
| V/C | 0.9636 | likely_pathogenic | 0.9264 | pathogenic | -1.402 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | N |
| V/D | 0.9929 | likely_pathogenic | 0.9472 | pathogenic | -2.164 | Highly Destabilizing | 0.997 | D | 0.753 | deleterious | None | None | None | None | N |
| V/E | 0.9723 | likely_pathogenic | 0.8724 | pathogenic | -2.103 | Highly Destabilizing | 0.998 | D | 0.694 | prob.neutral | None | None | None | None | N |
| V/F | 0.8828 | likely_pathogenic | 0.6532 | pathogenic | -1.344 | Destabilizing | 0.982 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/G | 0.878 | likely_pathogenic | 0.6555 | pathogenic | -2.242 | Highly Destabilizing | 0.997 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/H | 0.9941 | likely_pathogenic | 0.972 | pathogenic | -1.795 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/I | 0.1841 | likely_benign | 0.1194 | benign | -0.885 | Destabilizing | 0.046 | N | 0.25 | neutral | None | None | None | None | N |
| V/K | 0.9779 | likely_pathogenic | 0.9208 | pathogenic | -1.546 | Destabilizing | 0.993 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/L | 0.846 | likely_pathogenic | 0.6188 | pathogenic | -0.885 | Destabilizing | 0.76 | D | 0.423 | neutral | None | None | None | None | N |
| V/M | 0.7882 | likely_pathogenic | 0.4742 | ambiguous | -0.777 | Destabilizing | 0.986 | D | 0.701 | prob.neutral | None | None | None | None | N |
| V/N | 0.9829 | likely_pathogenic | 0.9072 | pathogenic | -1.508 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| V/P | 0.9966 | likely_pathogenic | 0.9854 | pathogenic | -1.18 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9725 | likely_pathogenic | 0.9015 | pathogenic | -1.626 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/R | 0.9664 | likely_pathogenic | 0.8976 | pathogenic | -1.065 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| V/S | 0.9293 | likely_pathogenic | 0.7336 | pathogenic | -2.051 | Highly Destabilizing | 0.993 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/T | 0.7393 | likely_pathogenic | 0.465 | ambiguous | -1.881 | Destabilizing | 0.953 | D | 0.632 | neutral | None | None | None | None | N |
| V/W | 0.9977 | likely_pathogenic | 0.9877 | pathogenic | -1.638 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| V/Y | 0.988 | likely_pathogenic | 0.9548 | pathogenic | -1.332 | Destabilizing | 0.998 | D | 0.695 | prob.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.