Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34293 | 103102;103103;103104 | chr2:178533738;178533737;178533736 | chr2:179398465;179398464;179398463 |
| N2AB | 32652 | 98179;98180;98181 | chr2:178533738;178533737;178533736 | chr2:179398465;179398464;179398463 |
| N2A | 31725 | 95398;95399;95400 | chr2:178533738;178533737;178533736 | chr2:179398465;179398464;179398463 |
| N2B | 25228 | 75907;75908;75909 | chr2:178533738;178533737;178533736 | chr2:179398465;179398464;179398463 |
| Novex-1 | 25353 | 76282;76283;76284 | chr2:178533738;178533737;178533736 | chr2:179398465;179398464;179398463 |
| Novex-2 | 25420 | 76483;76484;76485 | chr2:178533738;178533737;178533736 | chr2:179398465;179398464;179398463 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs72629783  |
-0.393 | 0.939 | N | 0.532 | 0.4 | None | gnomAD-2.1.1 | 1.99709E-04 | None | None | None | None | N | None | 0 | 4.81096E-04 | None | 1.93199E-04 | 0 | None | 3.27E-05 | None | 0 | 2.33904E-04 | 8.41043E-04 |
| K/E | rs72629783 |
-0.393 | 0.939 | N | 0.532 | 0.4 | None | gnomAD-3.1.2 | 1.51097E-04 | None | None | None | None | N | None | 2.41E-05 | 3.27097E-04 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 2.05749E-04 | 0 | 9.56938E-04 |
| K/E | rs72629783 |
-0.393 | 0.939 | N | 0.532 | 0.4 | None | gnomAD-4.0.0 | 1.90833E-04 | None | None | None | None | N | None | 5.33006E-05 | 4.49865E-04 | None | 0 | 0 | None | 0 | 4.61894E-03 | 1.90698E-04 | 2.19578E-05 | 3.52101E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.957 | likely_pathogenic | 0.9567 | pathogenic | -1.275 | Destabilizing | 0.953 | D | 0.548 | neutral | None | None | None | None | N |
| K/C | 0.9294 | likely_pathogenic | 0.9359 | pathogenic | -1.317 | Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| K/D | 0.9946 | likely_pathogenic | 0.9935 | pathogenic | -0.794 | Destabilizing | 0.973 | D | 0.629 | neutral | None | None | None | None | N |
| K/E | 0.9362 | likely_pathogenic | 0.9287 | pathogenic | -0.589 | Destabilizing | 0.939 | D | 0.532 | neutral | N | 0.506386212 | None | None | N |
| K/F | 0.9788 | likely_pathogenic | 0.9793 | pathogenic | -0.869 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| K/G | 0.9855 | likely_pathogenic | 0.9861 | pathogenic | -1.715 | Destabilizing | 0.91 | D | 0.642 | neutral | None | None | None | None | N |
| K/H | 0.7312 | likely_pathogenic | 0.7371 | pathogenic | -1.982 | Destabilizing | 0.993 | D | 0.695 | prob.neutral | None | None | None | None | N |
| K/I | 0.8763 | likely_pathogenic | 0.8771 | pathogenic | -0.076 | Destabilizing | 0.991 | D | 0.807 | deleterious | N | 0.467517902 | None | None | N |
| K/L | 0.842 | likely_pathogenic | 0.8405 | pathogenic | -0.076 | Destabilizing | 0.993 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/M | 0.8122 | likely_pathogenic | 0.8217 | pathogenic | -0.154 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/N | 0.9768 | likely_pathogenic | 0.9761 | pathogenic | -1.189 | Destabilizing | 0.1 | N | 0.399 | neutral | N | 0.483255527 | None | None | N |
| K/P | 0.9971 | likely_pathogenic | 0.997 | pathogenic | -0.449 | Destabilizing | 0.998 | D | 0.675 | neutral | None | None | None | None | N |
| K/Q | 0.6365 | likely_pathogenic | 0.649 | pathogenic | -1.103 | Destabilizing | 0.982 | D | 0.569 | neutral | N | 0.475658204 | None | None | N |
| K/R | 0.1366 | likely_benign | 0.1412 | benign | -0.923 | Destabilizing | 0.046 | N | 0.429 | neutral | N | 0.461699146 | None | None | N |
| K/S | 0.9764 | likely_pathogenic | 0.9754 | pathogenic | -1.948 | Destabilizing | 0.91 | D | 0.521 | neutral | None | None | None | None | N |
| K/T | 0.9248 | likely_pathogenic | 0.9253 | pathogenic | -1.486 | Destabilizing | 0.939 | D | 0.62 | neutral | N | 0.487521488 | None | None | N |
| K/V | 0.8486 | likely_pathogenic | 0.843 | pathogenic | -0.449 | Destabilizing | 0.993 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/W | 0.9837 | likely_pathogenic | 0.9851 | pathogenic | -0.717 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| K/Y | 0.9403 | likely_pathogenic | 0.9343 | pathogenic | -0.405 | Destabilizing | 0.998 | D | 0.763 | 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.