Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1571 | 4936;4937;4938 | chr2:178777252;178777251;178777250 | chr2:179641979;179641978;179641977 |
| N2AB | 1571 | 4936;4937;4938 | chr2:178777252;178777251;178777250 | chr2:179641979;179641978;179641977 |
| N2A | 1571 | 4936;4937;4938 | chr2:178777252;178777251;178777250 | chr2:179641979;179641978;179641977 |
| N2B | 1525 | 4798;4799;4800 | chr2:178777252;178777251;178777250 | chr2:179641979;179641978;179641977 |
| Novex-1 | 1525 | 4798;4799;4800 | chr2:178777252;178777251;178777250 | chr2:179641979;179641978;179641977 |
| Novex-2 | 1525 | 4798;4799;4800 | chr2:178777252;178777251;178777250 | chr2:179641979;179641978;179641977 |
| Novex-3 | 1571 | 4936;4937;4938 | chr2:178777252;178777251;178777250 | chr2:179641979;179641978;179641977 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | 0.002 | N | 0.333 | 0.2 | 0.275641507738 | gnomAD-4.0.0 | 6.84106E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99316E-07 | 0 | 0 |
| S/Y | None | None | 0.272 | N | 0.472 | 0.194 | 0.292423486923 | gnomAD-4.0.0 | 1.36821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79863E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0805 | likely_benign | 0.0798 | benign | -0.548 | Destabilizing | None | N | 0.113 | neutral | N | 0.451978099 | None | None | N |
| S/C | 0.117 | likely_benign | 0.1089 | benign | -0.32 | Destabilizing | 0.851 | D | 0.457 | neutral | D | 0.546956627 | None | None | N |
| S/D | 0.3835 | ambiguous | 0.3687 | ambiguous | 0.392 | Stabilizing | 0.001 | N | 0.21 | neutral | None | None | None | None | N |
| S/E | 0.4613 | ambiguous | 0.4332 | ambiguous | 0.31 | Stabilizing | 0.124 | N | 0.39 | neutral | None | None | None | None | N |
| S/F | 0.1921 | likely_benign | 0.1977 | benign | -1.139 | Destabilizing | 0.002 | N | 0.333 | neutral | N | 0.442028152 | None | None | N |
| S/G | 0.1072 | likely_benign | 0.1074 | benign | -0.663 | Destabilizing | 0.055 | N | 0.399 | neutral | None | None | None | None | N |
| S/H | 0.3596 | ambiguous | 0.339 | benign | -1.227 | Destabilizing | 0.859 | D | 0.465 | neutral | None | None | None | None | N |
| S/I | 0.2396 | likely_benign | 0.2374 | benign | -0.372 | Destabilizing | 0.124 | N | 0.449 | neutral | None | None | None | None | N |
| S/K | 0.6502 | likely_pathogenic | 0.6156 | pathogenic | -0.324 | Destabilizing | 0.22 | N | 0.415 | neutral | None | None | None | None | N |
| S/L | 0.1076 | likely_benign | 0.1116 | benign | -0.372 | Destabilizing | 0.055 | N | 0.435 | neutral | None | None | None | None | N |
| S/M | 0.1747 | likely_benign | 0.1742 | benign | -0.031 | Destabilizing | 0.667 | D | 0.465 | neutral | None | None | None | None | N |
| S/N | 0.1473 | likely_benign | 0.1449 | benign | -0.083 | Destabilizing | 0.124 | N | 0.419 | neutral | None | None | None | None | N |
| S/P | 0.8943 | likely_pathogenic | 0.9024 | pathogenic | -0.403 | Destabilizing | 0.301 | N | 0.471 | neutral | D | 0.545290546 | None | None | N |
| S/Q | 0.4509 | ambiguous | 0.4232 | ambiguous | -0.349 | Destabilizing | 0.667 | D | 0.477 | neutral | None | None | None | None | N |
| S/R | 0.5879 | likely_pathogenic | 0.5569 | ambiguous | -0.198 | Destabilizing | 0.497 | N | 0.469 | neutral | None | None | None | None | N |
| S/T | 0.0831 | likely_benign | 0.0822 | benign | -0.246 | Destabilizing | 0.001 | N | 0.139 | neutral | N | 0.453085965 | None | None | N |
| S/V | 0.1915 | likely_benign | 0.1907 | benign | -0.403 | Destabilizing | 0.124 | N | 0.44 | neutral | None | None | None | None | N |
| S/W | 0.3699 | ambiguous | 0.3599 | ambiguous | -1.084 | Destabilizing | 0.958 | D | 0.507 | neutral | None | None | None | None | N |
| S/Y | 0.1839 | likely_benign | 0.184 | benign | -0.812 | Destabilizing | 0.272 | N | 0.472 | neutral | N | 0.455918479 | 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.