Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18542 | 55849;55850;55851 | chr2:178601373;178601372;178601371 | chr2:179466100;179466099;179466098 |
| N2AB | 16901 | 50926;50927;50928 | chr2:178601373;178601372;178601371 | chr2:179466100;179466099;179466098 |
| N2A | 15974 | 48145;48146;48147 | chr2:178601373;178601372;178601371 | chr2:179466100;179466099;179466098 |
| N2B | 9477 | 28654;28655;28656 | chr2:178601373;178601372;178601371 | chr2:179466100;179466099;179466098 |
| Novex-1 | 9602 | 29029;29030;29031 | chr2:178601373;178601372;178601371 | chr2:179466100;179466099;179466098 |
| Novex-2 | 9669 | 29230;29231;29232 | chr2:178601373;178601372;178601371 | chr2:179466100;179466099;179466098 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs1391131193  |
0.574 | 0.994 | N | 0.51 | 0.394 | 0.346315397577 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs1391131193 |
0.574 | 0.994 | N | 0.51 | 0.394 | 0.346315397577 | gnomAD-4.0.0 | 1.59372E-06 | None | None | None | None | N | None | 0 | 2.2899E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1391131193 |
0.189 | 0.998 | N | 0.599 | 0.392 | 0.585624173979 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| D/Y | rs1391131193 |
0.189 | 0.998 | N | 0.599 | 0.392 | 0.585624173979 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/Y | rs1391131193 |
0.189 | 0.998 | N | 0.599 | 0.392 | 0.585624173979 | gnomAD-4.0.0 | 5.13189E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.58405E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3542 | ambiguous | 0.4189 | ambiguous | -0.073 | Destabilizing | 0.961 | D | 0.463 | neutral | N | 0.477761113 | None | None | N |
| D/C | 0.8049 | likely_pathogenic | 0.8536 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| D/E | 0.2605 | likely_benign | 0.3062 | benign | -0.249 | Destabilizing | 0.961 | D | 0.443 | neutral | N | 0.51407306 | None | None | N |
| D/F | 0.7996 | likely_pathogenic | 0.8265 | pathogenic | -0.026 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| D/G | 0.2155 | likely_benign | 0.2498 | benign | -0.225 | Destabilizing | 0.031 | N | 0.251 | neutral | N | 0.433894549 | None | None | N |
| D/H | 0.489 | ambiguous | 0.5636 | ambiguous | 0.496 | Stabilizing | 0.994 | D | 0.51 | neutral | N | 0.479900706 | None | None | N |
| D/I | 0.7531 | likely_pathogenic | 0.7973 | pathogenic | 0.271 | Stabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| D/K | 0.6742 | likely_pathogenic | 0.7545 | pathogenic | 0.409 | Stabilizing | 0.97 | D | 0.482 | neutral | None | None | None | None | N |
| D/L | 0.6429 | likely_pathogenic | 0.6966 | pathogenic | 0.271 | Stabilizing | 0.996 | D | 0.581 | neutral | None | None | None | None | N |
| D/M | 0.8006 | likely_pathogenic | 0.8502 | pathogenic | 0.12 | Stabilizing | 1.0 | D | 0.593 | neutral | None | None | None | None | N |
| D/N | 0.1266 | likely_benign | 0.1464 | benign | 0.08 | Stabilizing | 0.248 | N | 0.21 | neutral | N | 0.44270882 | None | None | N |
| D/P | 0.8858 | likely_pathogenic | 0.9131 | pathogenic | 0.177 | Stabilizing | 0.999 | D | 0.503 | neutral | None | None | None | None | N |
| D/Q | 0.5175 | ambiguous | 0.6047 | pathogenic | 0.107 | Stabilizing | 0.996 | D | 0.467 | neutral | None | None | None | None | N |
| D/R | 0.6906 | likely_pathogenic | 0.7708 | pathogenic | 0.681 | Stabilizing | 0.996 | D | 0.554 | neutral | None | None | None | None | N |
| D/S | 0.2052 | likely_benign | 0.2451 | benign | -0.019 | Destabilizing | 0.97 | D | 0.427 | neutral | None | None | None | None | N |
| D/T | 0.468 | ambiguous | 0.5481 | ambiguous | 0.109 | Stabilizing | 0.97 | D | 0.491 | neutral | None | None | None | None | N |
| D/V | 0.5618 | ambiguous | 0.6167 | pathogenic | 0.177 | Stabilizing | 0.998 | D | 0.581 | neutral | N | 0.501652266 | None | None | N |
| D/W | 0.9526 | likely_pathogenic | 0.9647 | pathogenic | 0.07 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/Y | 0.4366 | ambiguous | 0.4742 | ambiguous | 0.213 | Stabilizing | 0.998 | D | 0.599 | neutral | N | 0.476800061 | 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.