Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27928 | 84007;84008;84009 | chr2:178562350;178562349;178562348 | chr2:179427077;179427076;179427075 |
| N2AB | 26287 | 79084;79085;79086 | chr2:178562350;178562349;178562348 | chr2:179427077;179427076;179427075 |
| N2A | 25360 | 76303;76304;76305 | chr2:178562350;178562349;178562348 | chr2:179427077;179427076;179427075 |
| N2B | 18863 | 56812;56813;56814 | chr2:178562350;178562349;178562348 | chr2:179427077;179427076;179427075 |
| Novex-1 | 18988 | 57187;57188;57189 | chr2:178562350;178562349;178562348 | chr2:179427077;179427076;179427075 |
| Novex-2 | 19055 | 57388;57389;57390 | chr2:178562350;178562349;178562348 | chr2:179427077;179427076;179427075 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1703988873  |
None | 0.042 | N | 0.395 | 0.101 | 0.12205267543 | gnomAD-4.0.0 | 7.99859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.38819E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | None | N | 0.111 | 0.131 | 0.186928172975 | gnomAD-4.0.0 | 2.74201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60112E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4117 | ambiguous | 0.4305 | ambiguous | -0.769 | Destabilizing | 0.667 | D | 0.465 | neutral | None | None | None | None | N |
| A/D | 0.2861 | likely_benign | 0.3373 | benign | -0.701 | Destabilizing | 0.22 | N | 0.535 | neutral | None | None | None | None | N |
| A/E | 0.1832 | likely_benign | 0.2075 | benign | -0.855 | Destabilizing | 0.175 | N | 0.399 | neutral | N | 0.344513056 | None | None | N |
| A/F | 0.2836 | likely_benign | 0.3628 | ambiguous | -1.073 | Destabilizing | 0.497 | N | 0.532 | neutral | None | None | None | None | N |
| A/G | 0.136 | likely_benign | 0.1529 | benign | -0.56 | Destabilizing | 0.081 | N | 0.381 | neutral | N | 0.474808169 | None | None | N |
| A/H | 0.3871 | ambiguous | 0.4382 | ambiguous | -0.58 | Destabilizing | 0.859 | D | 0.487 | neutral | None | None | None | None | N |
| A/I | 0.1721 | likely_benign | 0.2186 | benign | -0.491 | Destabilizing | 0.055 | N | 0.398 | neutral | None | None | None | None | N |
| A/K | 0.3312 | likely_benign | 0.3886 | ambiguous | -0.788 | Destabilizing | 0.004 | N | 0.162 | neutral | None | None | None | None | N |
| A/L | 0.1292 | likely_benign | 0.1673 | benign | -0.491 | Destabilizing | 0.009 | N | 0.287 | neutral | None | None | None | None | N |
| A/M | 0.1389 | likely_benign | 0.1639 | benign | -0.374 | Destabilizing | 0.004 | N | 0.175 | neutral | None | None | None | None | N |
| A/N | 0.2129 | likely_benign | 0.2485 | benign | -0.436 | Destabilizing | 0.22 | N | 0.531 | neutral | None | None | None | None | N |
| A/P | 0.1097 | likely_benign | 0.1331 | benign | -0.455 | Destabilizing | 0.301 | N | 0.539 | neutral | N | 0.304268652 | None | None | N |
| A/Q | 0.2307 | likely_benign | 0.2515 | benign | -0.761 | Destabilizing | 0.22 | N | 0.529 | neutral | None | None | None | None | N |
| A/R | 0.3185 | likely_benign | 0.3694 | ambiguous | -0.26 | Destabilizing | 0.124 | N | 0.502 | neutral | None | None | None | None | N |
| A/S | 0.0838 | likely_benign | 0.0863 | benign | -0.645 | Destabilizing | 0.042 | N | 0.395 | neutral | N | 0.410815406 | None | None | N |
| A/T | 0.0772 | likely_benign | 0.082 | benign | -0.725 | Destabilizing | None | N | 0.061 | neutral | N | 0.365563119 | None | None | N |
| A/V | 0.0952 | likely_benign | 0.1168 | benign | -0.455 | Destabilizing | None | N | 0.111 | neutral | N | 0.439079443 | None | None | N |
| A/W | 0.6104 | likely_pathogenic | 0.6658 | pathogenic | -1.199 | Destabilizing | 0.958 | D | 0.509 | neutral | None | None | None | None | N |
| A/Y | 0.3895 | ambiguous | 0.4512 | ambiguous | -0.86 | Destabilizing | 0.667 | D | 0.512 | 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.