Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25526 | 76801;76802;76803 | chr2:178569556;178569555;178569554 | chr2:179434283;179434282;179434281 |
| N2AB | 23885 | 71878;71879;71880 | chr2:178569556;178569555;178569554 | chr2:179434283;179434282;179434281 |
| N2A | 22958 | 69097;69098;69099 | chr2:178569556;178569555;178569554 | chr2:179434283;179434282;179434281 |
| N2B | 16461 | 49606;49607;49608 | chr2:178569556;178569555;178569554 | chr2:179434283;179434282;179434281 |
| Novex-1 | 16586 | 49981;49982;49983 | chr2:178569556;178569555;178569554 | chr2:179434283;179434282;179434281 |
| Novex-2 | 16653 | 50182;50183;50184 | chr2:178569556;178569555;178569554 | chr2:179434283;179434282;179434281 |
| 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/A | None | None | 0.309 | N | 0.46 | 0.078 | 0.0954503805726 | gnomAD-4.0.0 | 6.8455E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52768E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs369344156  |
-0.696 | 0.521 | N | 0.404 | 0.186 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| G/D | rs369344156 |
-0.696 | 0.521 | N | 0.404 | 0.186 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/D | rs369344156 |
-0.696 | 0.521 | N | 0.404 | 0.186 | None | gnomAD-4.0.0 | 1.92212E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.28912E-05 | 0 | 6.41005E-05 |
| G/S | rs1246585720 |
-0.686 | 0.078 | N | 0.231 | 0.13 | 0.0806252709748 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs1246585720 |
-0.686 | 0.078 | N | 0.231 | 0.13 | 0.0806252709748 | gnomAD-4.0.0 | 1.59277E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43386E-05 | 0 |
| G/V | None | None | 0.884 | N | 0.455 | 0.277 | 0.526232973257 | gnomAD-4.0.0 | 6.8455E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16066E-05 | 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 | 0.0924 | likely_benign | 0.1066 | benign | -0.525 | Destabilizing | 0.309 | N | 0.46 | neutral | N | 0.442279171 | None | None | I |
| G/C | 0.1078 | likely_benign | 0.1174 | benign | -0.974 | Destabilizing | 0.035 | N | 0.451 | neutral | N | 0.486416738 | None | None | I |
| G/D | 0.4166 | ambiguous | 0.4671 | ambiguous | -0.721 | Destabilizing | 0.521 | D | 0.404 | neutral | N | 0.449279715 | None | None | I |
| G/E | 0.3878 | ambiguous | 0.4524 | ambiguous | -0.873 | Destabilizing | 0.02 | N | 0.334 | neutral | None | None | None | None | I |
| G/F | 0.4921 | ambiguous | 0.5512 | ambiguous | -1.266 | Destabilizing | 0.984 | D | 0.468 | neutral | None | None | None | None | I |
| G/H | 0.4466 | ambiguous | 0.4988 | ambiguous | -0.807 | Destabilizing | 0.987 | D | 0.428 | neutral | None | None | None | None | I |
| G/I | 0.239 | likely_benign | 0.2746 | benign | -0.59 | Destabilizing | 0.953 | D | 0.477 | neutral | None | None | None | None | I |
| G/K | 0.571 | likely_pathogenic | 0.6561 | pathogenic | -0.844 | Destabilizing | 0.59 | D | 0.423 | neutral | None | None | None | None | I |
| G/L | 0.3378 | likely_benign | 0.3985 | ambiguous | -0.59 | Destabilizing | 0.742 | D | 0.457 | neutral | None | None | None | None | I |
| G/M | 0.3573 | ambiguous | 0.4018 | ambiguous | -0.477 | Destabilizing | 0.996 | D | 0.46 | neutral | None | None | None | None | I |
| G/N | 0.2685 | likely_benign | 0.2934 | benign | -0.53 | Destabilizing | 0.037 | N | 0.375 | neutral | None | None | None | None | I |
| G/P | 0.961 | likely_pathogenic | 0.9719 | pathogenic | -0.534 | Destabilizing | 0.953 | D | 0.43 | neutral | None | None | None | None | I |
| G/Q | 0.3679 | ambiguous | 0.4246 | ambiguous | -0.847 | Destabilizing | 0.835 | D | 0.43 | neutral | None | None | None | None | I |
| G/R | 0.4268 | ambiguous | 0.4926 | ambiguous | -0.419 | Destabilizing | 0.884 | D | 0.432 | neutral | N | 0.493187994 | None | None | I |
| G/S | 0.0837 | likely_benign | 0.086 | benign | -0.713 | Destabilizing | 0.078 | N | 0.231 | neutral | N | 0.393946507 | None | None | I |
| G/T | 0.1351 | likely_benign | 0.1529 | benign | -0.796 | Destabilizing | 0.59 | D | 0.415 | neutral | None | None | None | None | I |
| G/V | 0.1545 | likely_benign | 0.1824 | benign | -0.534 | Destabilizing | 0.884 | D | 0.455 | neutral | N | 0.509946958 | None | None | I |
| G/W | 0.5211 | ambiguous | 0.5712 | pathogenic | -1.398 | Destabilizing | 0.996 | D | 0.511 | neutral | None | None | None | None | I |
| G/Y | 0.3962 | ambiguous | 0.4486 | ambiguous | -1.039 | Destabilizing | 0.984 | D | 0.468 | neutral | None | None | None | None | I |
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.