Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17586 | 52981;52982;52983 | chr2:178608031;178608030;178608029 | chr2:179472758;179472757;179472756 |
| N2AB | 15945 | 48058;48059;48060 | chr2:178608031;178608030;178608029 | chr2:179472758;179472757;179472756 |
| N2A | 15018 | 45277;45278;45279 | chr2:178608031;178608030;178608029 | chr2:179472758;179472757;179472756 |
| N2B | 8521 | 25786;25787;25788 | chr2:178608031;178608030;178608029 | chr2:179472758;179472757;179472756 |
| Novex-1 | 8646 | 26161;26162;26163 | chr2:178608031;178608030;178608029 | chr2:179472758;179472757;179472756 |
| Novex-2 | 8713 | 26362;26363;26364 | chr2:178608031;178608030;178608029 | chr2:179472758;179472757;179472756 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs969641276  |
None | 1.0 | N | 0.763 | 0.497 | 0.713578869726 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 1.01626E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | None | None | 0.993 | N | 0.273 | 0.226 | 0.420939154896 | gnomAD-4.0.0 | 1.59345E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86159E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.7221 | likely_pathogenic | 0.6563 | pathogenic | -2.908 | Highly Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| I/C | 0.9489 | likely_pathogenic | 0.9469 | pathogenic | -2.621 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| I/D | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -2.872 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| I/E | 0.9944 | likely_pathogenic | 0.9938 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| I/F | 0.714 | likely_pathogenic | 0.6746 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.478156414 | None | None | N |
| I/G | 0.9879 | likely_pathogenic | 0.9844 | pathogenic | -3.476 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| I/H | 0.996 | likely_pathogenic | 0.9948 | pathogenic | -2.7 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| I/K | 0.9893 | likely_pathogenic | 0.9868 | pathogenic | -2.327 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| I/L | 0.2898 | likely_benign | 0.2747 | benign | -1.26 | Destabilizing | 0.993 | D | 0.343 | neutral | N | 0.484747443 | None | None | N |
| I/M | 0.2129 | likely_benign | 0.2025 | benign | -1.43 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.517828228 | None | None | N |
| I/N | 0.9886 | likely_pathogenic | 0.9874 | pathogenic | -2.669 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.510405359 | None | None | N |
| I/P | 0.996 | likely_pathogenic | 0.9938 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| I/Q | 0.9902 | likely_pathogenic | 0.9884 | pathogenic | -2.538 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| I/R | 0.9805 | likely_pathogenic | 0.976 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| I/S | 0.9465 | likely_pathogenic | 0.9346 | pathogenic | -3.496 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.498542075 | None | None | N |
| I/T | 0.7872 | likely_pathogenic | 0.712 | pathogenic | -3.103 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.491540636 | None | None | N |
| I/V | 0.0943 | likely_benign | 0.0846 | benign | -1.79 | Destabilizing | 0.993 | D | 0.273 | neutral | N | 0.410927262 | None | None | N |
| I/W | 0.9918 | likely_pathogenic | 0.9876 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| I/Y | 0.9738 | likely_pathogenic | 0.9672 | pathogenic | -1.789 | Destabilizing | 1.0 | D | 0.811 | 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.