Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23510 | 70753;70754;70755 | chr2:178575604;178575603;178575602 | chr2:179440331;179440330;179440329 |
| N2AB | 21869 | 65830;65831;65832 | chr2:178575604;178575603;178575602 | chr2:179440331;179440330;179440329 |
| N2A | 20942 | 63049;63050;63051 | chr2:178575604;178575603;178575602 | chr2:179440331;179440330;179440329 |
| N2B | 14445 | 43558;43559;43560 | chr2:178575604;178575603;178575602 | chr2:179440331;179440330;179440329 |
| Novex-1 | 14570 | 43933;43934;43935 | chr2:178575604;178575603;178575602 | chr2:179440331;179440330;179440329 |
| Novex-2 | 14637 | 44134;44135;44136 | chr2:178575604;178575603;178575602 | chr2:179440331;179440330;179440329 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs727503569  |
None | 0.048 | N | 0.463 | 0.123 | 0.431150418975 | 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 |
| M/I | rs727503569 |
None | 0.048 | N | 0.463 | 0.123 | 0.431150418975 | gnomAD-4.0.0 | 3.71861E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08625E-06 | 0 | 0 |
| M/T | None | None | 0.001 | N | 0.381 | 0.269 | 0.469333501611 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| M/V | None | None | 0.022 | N | 0.447 | 0.184 | 0.386558576397 | gnomAD-4.0.0 | 1.36852E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79909E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.4396 | ambiguous | 0.4445 | ambiguous | -2.237 | Highly Destabilizing | None | N | 0.363 | neutral | None | None | None | None | N |
| M/C | 0.6166 | likely_pathogenic | 0.6296 | pathogenic | -2.142 | Highly Destabilizing | 0.842 | D | 0.693 | prob.neutral | None | None | None | None | N |
| M/D | 0.9726 | likely_pathogenic | 0.9758 | pathogenic | -1.94 | Destabilizing | 0.236 | N | 0.679 | prob.neutral | None | None | None | None | N |
| M/E | 0.8179 | likely_pathogenic | 0.8274 | pathogenic | -1.784 | Destabilizing | 0.236 | N | 0.649 | neutral | None | None | None | None | N |
| M/F | 0.365 | ambiguous | 0.3883 | ambiguous | -0.806 | Destabilizing | 0.428 | N | 0.554 | neutral | None | None | None | None | N |
| M/G | 0.7779 | likely_pathogenic | 0.7917 | pathogenic | -2.653 | Highly Destabilizing | 0.063 | N | 0.654 | neutral | None | None | None | None | N |
| M/H | 0.698 | likely_pathogenic | 0.7111 | pathogenic | -2.085 | Highly Destabilizing | 0.942 | D | 0.699 | prob.neutral | None | None | None | None | N |
| M/I | 0.5823 | likely_pathogenic | 0.584 | pathogenic | -1.075 | Destabilizing | 0.048 | N | 0.463 | neutral | N | 0.432649329 | None | None | N |
| M/K | 0.4106 | ambiguous | 0.4527 | ambiguous | -1.367 | Destabilizing | 0.189 | N | 0.602 | neutral | N | 0.43143582 | None | None | N |
| M/L | 0.137 | likely_benign | 0.1377 | benign | -1.075 | Destabilizing | None | N | 0.168 | neutral | N | 0.367291128 | None | None | N |
| M/N | 0.7591 | likely_pathogenic | 0.7729 | pathogenic | -1.503 | Destabilizing | 0.236 | N | 0.665 | neutral | None | None | None | None | N |
| M/P | 0.9969 | likely_pathogenic | 0.9974 | pathogenic | -1.442 | Destabilizing | 0.385 | N | 0.671 | neutral | None | None | None | None | N |
| M/Q | 0.4395 | ambiguous | 0.4368 | ambiguous | -1.366 | Destabilizing | 0.603 | D | 0.553 | neutral | None | None | None | None | N |
| M/R | 0.4405 | ambiguous | 0.4496 | ambiguous | -1.233 | Destabilizing | 0.321 | N | 0.638 | neutral | N | 0.383047228 | None | None | N |
| M/S | 0.3831 | ambiguous | 0.3991 | ambiguous | -2.095 | Highly Destabilizing | 0.004 | N | 0.327 | neutral | None | None | None | None | N |
| M/T | 0.196 | likely_benign | 0.1997 | benign | -1.827 | Destabilizing | 0.001 | N | 0.381 | neutral | N | 0.401787704 | None | None | N |
| M/V | 0.1996 | likely_benign | 0.1859 | benign | -1.442 | Destabilizing | 0.022 | N | 0.447 | neutral | N | 0.431590536 | None | None | N |
| M/W | 0.7846 | likely_pathogenic | 0.8103 | pathogenic | -1.024 | Destabilizing | 0.942 | D | 0.688 | prob.neutral | None | None | None | None | N |
| M/Y | 0.6916 | likely_pathogenic | 0.7251 | pathogenic | -1.024 | Destabilizing | 0.603 | D | 0.678 | 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.