Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31437 | 94534;94535;94536 | chr2:178547216;178547215;178547214 | chr2:179411943;179411942;179411941 |
| N2AB | 29796 | 89611;89612;89613 | chr2:178547216;178547215;178547214 | chr2:179411943;179411942;179411941 |
| N2A | 28869 | 86830;86831;86832 | chr2:178547216;178547215;178547214 | chr2:179411943;179411942;179411941 |
| N2B | 22372 | 67339;67340;67341 | chr2:178547216;178547215;178547214 | chr2:179411943;179411942;179411941 |
| Novex-1 | 22497 | 67714;67715;67716 | chr2:178547216;178547215;178547214 | chr2:179411943;179411942;179411941 |
| Novex-2 | 22564 | 67915;67916;67917 | chr2:178547216;178547215;178547214 | chr2:179411943;179411942;179411941 |
| 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/V | rs1313606225  |
0.001 | 1.0 | D | 0.795 | 0.517 | 0.863765479448 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/V | rs1313606225 |
0.001 | 1.0 | D | 0.795 | 0.517 | 0.863765479448 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs1313606225 |
0.001 | 1.0 | D | 0.795 | 0.517 | 0.863765479448 | gnomAD-4.0.0 | 3.7182E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08578E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8455 | likely_pathogenic | 0.846 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.511693396 | None | None | I |
| G/C | 0.9064 | likely_pathogenic | 0.9136 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.53461027 | None | None | I |
| G/D | 0.9104 | likely_pathogenic | 0.9215 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.522240007 | None | None | I |
| G/E | 0.9486 | likely_pathogenic | 0.9555 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/F | 0.9835 | likely_pathogenic | 0.9837 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/H | 0.9634 | likely_pathogenic | 0.965 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/I | 0.98 | likely_pathogenic | 0.981 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/K | 0.9609 | likely_pathogenic | 0.9633 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/L | 0.9745 | likely_pathogenic | 0.9752 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/M | 0.9801 | likely_pathogenic | 0.9804 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.8926 | likely_pathogenic | 0.8976 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/P | 0.9962 | likely_pathogenic | 0.996 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/Q | 0.9369 | likely_pathogenic | 0.9409 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/R | 0.9219 | likely_pathogenic | 0.9285 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.534103291 | None | None | I |
| G/S | 0.6581 | likely_pathogenic | 0.6562 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.516960088 | None | None | I |
| G/T | 0.9374 | likely_pathogenic | 0.9353 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/V | 0.969 | likely_pathogenic | 0.9703 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.552714525 | None | None | I |
| G/W | 0.9811 | likely_pathogenic | 0.9821 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.9706 | likely_pathogenic | 0.9722 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.779 | deleterious | 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.