Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35668 | 107227;107228;107229 | chr2:178528749;178528748;178528747 | chr2:179393476;179393475;179393474 |
| N2AB | 34027 | 102304;102305;102306 | chr2:178528749;178528748;178528747 | chr2:179393476;179393475;179393474 |
| N2A | 33100 | 99523;99524;99525 | chr2:178528749;178528748;178528747 | chr2:179393476;179393475;179393474 |
| N2B | 26603 | 80032;80033;80034 | chr2:178528749;178528748;178528747 | chr2:179393476;179393475;179393474 |
| Novex-1 | 26728 | 80407;80408;80409 | chr2:178528749;178528748;178528747 | chr2:179393476;179393475;179393474 |
| Novex-2 | 26795 | 80608;80609;80610 | chr2:178528749;178528748;178528747 | chr2:179393476;179393475;179393474 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1687674300  |
None | 0.334 | N | 0.503 | 0.136 | 0.225215365344 | gnomAD-4.0.0 | 3.18635E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72436E-06 | 0 | 0 |
| S/R | rs779265208 |
-0.4 | 0.781 | N | 0.519 | 0.172 | 0.328222422547 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.34485E-04 | None | 0 | None | 0 | 0 | 1.66334E-04 |
| S/R | rs779265208 |
-0.4 | 0.781 | N | 0.519 | 0.172 | 0.328222422547 | gnomAD-4.0.0 | 4.10724E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.26027E-04 | None | 0 | 0 | 0 | 0 | 1.65744E-05 |
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 | 0.1262 | likely_benign | 0.1187 | benign | -0.502 | Destabilizing | 0.121 | N | 0.428 | neutral | None | None | None | None | N |
| S/C | 0.1474 | likely_benign | 0.1924 | benign | -0.197 | Destabilizing | 0.976 | D | 0.555 | neutral | N | 0.484748309 | None | None | N |
| S/D | 0.3096 | likely_benign | 0.2897 | benign | -0.451 | Destabilizing | 0.399 | N | 0.484 | neutral | None | None | None | None | N |
| S/E | 0.4821 | ambiguous | 0.4331 | ambiguous | -0.483 | Destabilizing | 0.574 | D | 0.488 | neutral | None | None | None | None | N |
| S/F | 0.3612 | ambiguous | 0.332 | benign | -0.719 | Destabilizing | 0.935 | D | 0.596 | neutral | None | None | None | None | N |
| S/G | 0.0803 | likely_benign | 0.073 | benign | -0.733 | Destabilizing | 0.001 | N | 0.259 | neutral | N | 0.483881518 | None | None | N |
| S/H | 0.2979 | likely_benign | 0.2779 | benign | -1.287 | Destabilizing | 0.982 | D | 0.535 | neutral | None | None | None | None | N |
| S/I | 0.1974 | likely_benign | 0.1745 | benign | 0.003 | Stabilizing | 0.781 | D | 0.589 | neutral | N | 0.484401593 | None | None | N |
| S/K | 0.4727 | ambiguous | 0.4184 | ambiguous | -0.842 | Destabilizing | 0.399 | N | 0.513 | neutral | None | None | None | None | N |
| S/L | 0.1919 | likely_benign | 0.1672 | benign | 0.003 | Stabilizing | 0.7 | D | 0.511 | neutral | None | None | None | None | N |
| S/M | 0.3129 | likely_benign | 0.2773 | benign | 0.375 | Stabilizing | 0.982 | D | 0.543 | neutral | None | None | None | None | N |
| S/N | 0.1268 | likely_benign | 0.1178 | benign | -0.642 | Destabilizing | 0.334 | N | 0.503 | neutral | N | 0.483014726 | None | None | N |
| S/P | 0.7179 | likely_pathogenic | 0.7282 | pathogenic | -0.132 | Destabilizing | 0.826 | D | 0.522 | neutral | None | None | None | None | N |
| S/Q | 0.4215 | ambiguous | 0.3721 | ambiguous | -0.817 | Destabilizing | 0.826 | D | 0.515 | neutral | None | None | None | None | N |
| S/R | 0.3705 | ambiguous | 0.3264 | benign | -0.668 | Destabilizing | 0.781 | D | 0.519 | neutral | N | 0.483361443 | None | None | N |
| S/T | 0.1036 | likely_benign | 0.095 | benign | -0.621 | Destabilizing | 0.334 | N | 0.451 | neutral | N | 0.482841368 | None | None | N |
| S/V | 0.2426 | likely_benign | 0.2103 | benign | -0.132 | Destabilizing | 0.826 | D | 0.563 | neutral | None | None | None | None | N |
| S/W | 0.507 | ambiguous | 0.4848 | ambiguous | -0.761 | Destabilizing | 0.982 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/Y | 0.3198 | likely_benign | 0.2955 | benign | -0.512 | Destabilizing | 0.935 | D | 0.6 | 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.