Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16992 | 51199;51200;51201 | chr2:178611155;178611154;178611153 | chr2:179475882;179475881;179475880 |
| N2AB | 15351 | 46276;46277;46278 | chr2:178611155;178611154;178611153 | chr2:179475882;179475881;179475880 |
| N2A | 14424 | 43495;43496;43497 | chr2:178611155;178611154;178611153 | chr2:179475882;179475881;179475880 |
| N2B | 7927 | 24004;24005;24006 | chr2:178611155;178611154;178611153 | chr2:179475882;179475881;179475880 |
| Novex-1 | 8052 | 24379;24380;24381 | chr2:178611155;178611154;178611153 | chr2:179475882;179475881;179475880 |
| Novex-2 | 8119 | 24580;24581;24582 | chr2:178611155;178611154;178611153 | chr2:179475882;179475881;179475880 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/V | rs1280875443  |
-0.278 | 1.0 | D | 0.687 | 0.525 | 0.704002560614 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1280875443 |
-0.278 | 1.0 | D | 0.687 | 0.525 | 0.704002560614 | gnomAD-4.0.0 | 1.5934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78707E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3044 | likely_benign | 0.3143 | benign | -0.277 | Destabilizing | 1.0 | D | 0.587 | neutral | D | 0.573364169 | None | None | N |
| G/C | 0.4075 | ambiguous | 0.3917 | ambiguous | -0.694 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.677525423 | None | None | N |
| G/D | 0.1949 | likely_benign | 0.1842 | benign | -0.951 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.472698614 | None | None | N |
| G/E | 0.2299 | likely_benign | 0.2315 | benign | -1.132 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/F | 0.8156 | likely_pathogenic | 0.8291 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/H | 0.4811 | ambiguous | 0.4837 | ambiguous | -0.576 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| G/I | 0.6377 | likely_pathogenic | 0.6437 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/K | 0.4023 | ambiguous | 0.4129 | ambiguous | -0.89 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/L | 0.6835 | likely_pathogenic | 0.7033 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/M | 0.6704 | likely_pathogenic | 0.6803 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/N | 0.2426 | likely_benign | 0.2506 | benign | -0.415 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/P | 0.9798 | likely_pathogenic | 0.9751 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/Q | 0.2962 | likely_benign | 0.3028 | benign | -0.768 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/R | 0.3101 | likely_benign | 0.3185 | benign | -0.361 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.584204448 | None | None | N |
| G/S | 0.1398 | likely_benign | 0.1403 | benign | -0.47 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.50747988 | None | None | N |
| G/T | 0.3467 | ambiguous | 0.3634 | ambiguous | -0.601 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/V | 0.5458 | ambiguous | 0.5363 | ambiguous | -0.371 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.63869624 | None | None | N |
| G/W | 0.6818 | likely_pathogenic | 0.6773 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/Y | 0.6853 | likely_pathogenic | 0.6865 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.7 | 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.