Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8778 | 26557;26558;26559 | chr2:178714442;178714441;178714440 | chr2:179579169;179579168;179579167 |
| N2AB | 8461 | 25606;25607;25608 | chr2:178714442;178714441;178714440 | chr2:179579169;179579168;179579167 |
| N2A | 7534 | 22825;22826;22827 | chr2:178714442;178714441;178714440 | chr2:179579169;179579168;179579167 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs1486145907  |
None | 0.972 | N | 0.56 | 0.297 | 0.315609569513 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07039E-04 | 0 |
| R/K | rs1486145907 |
None | 0.972 | N | 0.56 | 0.297 | 0.315609569513 | gnomAD-4.0.0 | 8.05664E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32417E-06 | 2.19582E-05 | 0 |
| R/S | rs754011566 |
-0.04 | 1.0 | D | 0.651 | 0.388 | 0.380730819819 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| R/T | rs1486145907 |
0.116 | 1.0 | N | 0.645 | 0.39 | 0.646531519106 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/T | rs1486145907 |
0.116 | 1.0 | N | 0.645 | 0.39 | 0.646531519106 | gnomAD-4.0.0 | 6.84268E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9952E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3722 | ambiguous | 0.5212 | ambiguous | 0.066 | Stabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| R/C | 0.2719 | likely_benign | 0.3812 | ambiguous | -0.368 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| R/D | 0.6203 | likely_pathogenic | 0.7274 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| R/E | 0.2976 | likely_benign | 0.3799 | ambiguous | -0.314 | Destabilizing | 0.997 | D | 0.655 | neutral | None | None | None | None | N |
| R/F | 0.5338 | ambiguous | 0.6567 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| R/G | 0.2355 | likely_benign | 0.3546 | ambiguous | -0.087 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.494063802 | None | None | N |
| R/H | 0.1252 | likely_benign | 0.1548 | benign | -0.594 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| R/I | 0.3394 | likely_benign | 0.4485 | ambiguous | 0.425 | Stabilizing | 0.999 | D | 0.704 | prob.neutral | N | 0.512421546 | None | None | N |
| R/K | 0.1276 | likely_benign | 0.1547 | benign | -0.225 | Destabilizing | 0.972 | D | 0.56 | neutral | N | 0.468410633 | None | None | N |
| R/L | 0.2574 | likely_benign | 0.358 | ambiguous | 0.425 | Stabilizing | 0.999 | D | 0.616 | neutral | None | None | None | None | N |
| R/M | 0.3051 | likely_benign | 0.4063 | ambiguous | -0.129 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/N | 0.5758 | likely_pathogenic | 0.6935 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| R/P | 0.4963 | ambiguous | 0.67 | pathogenic | 0.324 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| R/Q | 0.1054 | likely_benign | 0.1323 | benign | -0.246 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| R/S | 0.4619 | ambiguous | 0.6078 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.533480832 | None | None | N |
| R/T | 0.24 | likely_benign | 0.3346 | benign | -0.23 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.500600409 | None | None | N |
| R/V | 0.3982 | ambiguous | 0.5157 | ambiguous | 0.324 | Stabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/W | 0.1506 | likely_benign | 0.2071 | benign | -0.439 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| R/Y | 0.3901 | ambiguous | 0.5031 | ambiguous | -0.023 | Destabilizing | 0.999 | D | 0.687 | prob.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.