Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29798 | 89617;89618;89619 | chr2:178553613;178553612;178553611 | chr2:179418340;179418339;179418338 |
| N2AB | 28157 | 84694;84695;84696 | chr2:178553613;178553612;178553611 | chr2:179418340;179418339;179418338 |
| N2A | 27230 | 81913;81914;81915 | chr2:178553613;178553612;178553611 | chr2:179418340;179418339;179418338 |
| N2B | 20733 | 62422;62423;62424 | chr2:178553613;178553612;178553611 | chr2:179418340;179418339;179418338 |
| Novex-1 | 20858 | 62797;62798;62799 | chr2:178553613;178553612;178553611 | chr2:179418340;179418339;179418338 |
| Novex-2 | 20925 | 62998;62999;63000 | chr2:178553613;178553612;178553611 | chr2:179418340;179418339;179418338 |
| 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/A | rs886055232  |
None | 0.174 | N | 0.414 | 0.044 | 0.128392430309 | gnomAD-4.0.0 | 2.05255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.55858E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | None | None | 0.957 | N | 0.761 | 0.367 | 0.593798965771 | gnomAD-4.0.0 | 2.05258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69838E-06 | 0 | 0 |
| S/P | rs886055232 |
None | 0.003 | N | 0.317 | 0.198 | 0.149567049428 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs886055232 |
None | 0.003 | N | 0.317 | 0.198 | 0.149567049428 | gnomAD-4.0.0 | 6.84185E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-07 | 0 | 0 |
| S/Y | rs1344691856 |
-0.815 | 0.957 | N | 0.763 | 0.369 | 0.586756053714 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/Y | rs1344691856 |
-0.815 | 0.957 | N | 0.763 | 0.369 | 0.586756053714 | gnomAD-4.0.0 | 3.42096E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4973E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0751 | likely_benign | 0.0771 | benign | -0.389 | Destabilizing | 0.174 | N | 0.414 | neutral | N | 0.485966525 | None | None | N |
| S/C | 0.1143 | likely_benign | 0.1118 | benign | -0.35 | Destabilizing | 0.988 | D | 0.695 | prob.neutral | N | 0.471866218 | None | None | N |
| S/D | 0.3497 | ambiguous | 0.3351 | benign | 0.379 | Stabilizing | 0.575 | D | 0.474 | neutral | None | None | None | None | N |
| S/E | 0.3648 | ambiguous | 0.3796 | ambiguous | 0.298 | Stabilizing | 0.404 | N | 0.439 | neutral | None | None | None | None | N |
| S/F | 0.2798 | likely_benign | 0.2612 | benign | -0.994 | Destabilizing | 0.957 | D | 0.761 | deleterious | N | 0.482462055 | None | None | N |
| S/G | 0.0771 | likely_benign | 0.0778 | benign | -0.504 | Destabilizing | 0.575 | D | 0.439 | neutral | None | None | None | None | N |
| S/H | 0.2584 | likely_benign | 0.2832 | benign | -0.963 | Destabilizing | 0.973 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/I | 0.2229 | likely_benign | 0.2092 | benign | -0.216 | Destabilizing | 0.906 | D | 0.753 | deleterious | None | None | None | None | N |
| S/K | 0.4206 | ambiguous | 0.4551 | ambiguous | -0.367 | Destabilizing | 0.404 | N | 0.437 | neutral | None | None | None | None | N |
| S/L | 0.1076 | likely_benign | 0.1084 | benign | -0.216 | Destabilizing | 0.575 | D | 0.623 | neutral | None | None | None | None | N |
| S/M | 0.1998 | likely_benign | 0.2113 | benign | -0.075 | Destabilizing | 0.991 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/N | 0.1169 | likely_benign | 0.1198 | benign | -0.165 | Destabilizing | 0.733 | D | 0.513 | neutral | None | None | None | None | N |
| S/P | 0.0703 | likely_benign | 0.0815 | benign | -0.245 | Destabilizing | 0.003 | N | 0.317 | neutral | N | 0.498549034 | None | None | N |
| S/Q | 0.3087 | likely_benign | 0.3638 | ambiguous | -0.359 | Destabilizing | 0.109 | N | 0.233 | neutral | None | None | None | None | N |
| S/R | 0.407 | ambiguous | 0.4277 | ambiguous | -0.212 | Destabilizing | 0.826 | D | 0.647 | neutral | None | None | None | None | N |
| S/T | 0.0752 | likely_benign | 0.0753 | benign | -0.277 | Destabilizing | 0.505 | D | 0.465 | neutral | N | 0.433457405 | None | None | N |
| S/V | 0.1962 | likely_benign | 0.1946 | benign | -0.245 | Destabilizing | 0.826 | D | 0.654 | neutral | None | None | None | None | N |
| S/W | 0.3833 | ambiguous | 0.3631 | ambiguous | -1.005 | Destabilizing | 0.991 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2131 | likely_benign | 0.2001 | benign | -0.706 | Destabilizing | 0.957 | D | 0.763 | deleterious | N | 0.479094693 | 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.