Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2690 | 8293;8294;8295 | chr2:178771259;178771258;178771257 | chr2:179635986;179635985;179635984 |
| N2AB | 2690 | 8293;8294;8295 | chr2:178771259;178771258;178771257 | chr2:179635986;179635985;179635984 |
| N2A | 2690 | 8293;8294;8295 | chr2:178771259;178771258;178771257 | chr2:179635986;179635985;179635984 |
| N2B | 2644 | 8155;8156;8157 | chr2:178771259;178771258;178771257 | chr2:179635986;179635985;179635984 |
| Novex-1 | 2644 | 8155;8156;8157 | chr2:178771259;178771258;178771257 | chr2:179635986;179635985;179635984 |
| Novex-2 | 2644 | 8155;8156;8157 | chr2:178771259;178771258;178771257 | chr2:179635986;179635985;179635984 |
| Novex-3 | 2690 | 8293;8294;8295 | chr2:178771259;178771258;178771257 | chr2:179635986;179635985;179635984 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs374620001  |
-0.131 | 0.991 | N | 0.76 | 0.261 | None | gnomAD-2.1.1 | 5.76795E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.29083E-03 | None | 4.89972E-04 | None | 0 | 0 | 4.15397E-04 |
| T/I | rs374620001 |
-0.131 | 0.991 | N | 0.76 | 0.261 | None | gnomAD-3.1.2 | 3.02313E-04 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 7.14838E-03 | None | 0 | 0 | 1.47E-05 | 1.44808E-03 | 0 |
| T/I | rs374620001 |
-0.131 | 0.991 | N | 0.76 | 0.261 | None | 1000 genomes | 1.79712E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 7.9E-03 | 0 | None | None | None | 1E-03 | None |
| T/I | rs374620001 |
-0.131 | 0.991 | N | 0.76 | 0.261 | None | gnomAD-4.0.0 | 2.10646E-04 | None | None | None | None | N | None | 0 | 3.33322E-05 | None | 0 | 5.62073E-03 | None | 0 | 0 | 5.0847E-06 | 5.81868E-04 | 4.31959E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1273 | likely_benign | 0.115 | benign | -1.581 | Destabilizing | 0.76 | D | 0.521 | neutral | N | 0.368670725 | None | None | N |
| T/C | 0.4641 | ambiguous | 0.454 | ambiguous | -1.189 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| T/D | 0.6147 | likely_pathogenic | 0.5963 | pathogenic | -1.776 | Destabilizing | 0.986 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/E | 0.4651 | ambiguous | 0.4342 | ambiguous | -1.521 | Destabilizing | 0.986 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/F | 0.393 | ambiguous | 0.4058 | ambiguous | -1.208 | Destabilizing | 0.998 | D | 0.795 | deleterious | None | None | None | None | N |
| T/G | 0.3691 | ambiguous | 0.367 | ambiguous | -2.006 | Highly Destabilizing | 0.91 | D | 0.611 | neutral | None | None | None | None | N |
| T/H | 0.4122 | ambiguous | 0.3884 | ambiguous | -1.856 | Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| T/I | 0.228 | likely_benign | 0.2321 | benign | -0.436 | Destabilizing | 0.991 | D | 0.76 | deleterious | N | 0.398627871 | None | None | N |
| T/K | 0.491 | ambiguous | 0.4433 | ambiguous | -0.425 | Destabilizing | 0.986 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/L | 0.2131 | likely_benign | 0.2133 | benign | -0.436 | Destabilizing | 0.953 | D | 0.609 | neutral | None | None | None | None | N |
| T/M | 0.1639 | likely_benign | 0.15 | benign | -0.584 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| T/N | 0.2319 | likely_benign | 0.2338 | benign | -1.268 | Destabilizing | 0.982 | D | 0.62 | neutral | N | 0.516378253 | None | None | N |
| T/P | 0.9053 | likely_pathogenic | 0.87 | pathogenic | -0.791 | Destabilizing | 0.991 | D | 0.757 | deleterious | N | 0.516583876 | None | None | N |
| T/Q | 0.3803 | ambiguous | 0.3342 | benign | -0.989 | Destabilizing | 0.993 | D | 0.772 | deleterious | None | None | None | None | N |
| T/R | 0.3676 | ambiguous | 0.3132 | benign | -0.688 | Destabilizing | 0.986 | D | 0.758 | deleterious | None | None | None | None | N |
| T/S | 0.1172 | likely_benign | 0.1181 | benign | -1.569 | Destabilizing | 0.17 | N | 0.307 | neutral | N | 0.351837737 | None | None | N |
| T/V | 0.1889 | likely_benign | 0.1912 | benign | -0.791 | Destabilizing | 0.953 | D | 0.535 | neutral | None | None | None | None | N |
| T/W | 0.7632 | likely_pathogenic | 0.7484 | pathogenic | -1.283 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| T/Y | 0.4587 | ambiguous | 0.434 | ambiguous | -0.922 | Destabilizing | 0.998 | D | 0.795 | 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.