Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15897 | 47914;47915;47916 | chr2:178617396;178617395;178617394 | chr2:179482123;179482122;179482121 |
| N2AB | 14256 | 42991;42992;42993 | chr2:178617396;178617395;178617394 | chr2:179482123;179482122;179482121 |
| N2A | 13329 | 40210;40211;40212 | chr2:178617396;178617395;178617394 | chr2:179482123;179482122;179482121 |
| N2B | 6832 | 20719;20720;20721 | chr2:178617396;178617395;178617394 | chr2:179482123;179482122;179482121 |
| Novex-1 | 6957 | 21094;21095;21096 | chr2:178617396;178617395;178617394 | chr2:179482123;179482122;179482121 |
| Novex-2 | 7024 | 21295;21296;21297 | chr2:178617396;178617395;178617394 | chr2:179482123;179482122;179482121 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1307467138  |
None | 0.996 | D | 0.721 | 0.557 | 0.507331908393 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95236E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/A | rs1307467138 |
None | 0.996 | D | 0.721 | 0.557 | 0.507331908393 | gnomAD-4.0.0 | 6.58389E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.95236E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs746794275 |
-1.765 | 0.992 | D | 0.66 | 0.474 | 0.444807159249 | gnomAD-2.1.1 | 4.55E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.03E-05 | None | 0 | 0 | 0 |
| E/K | rs746794275 |
-1.765 | 0.992 | D | 0.66 | 0.474 | 0.444807159249 | gnomAD-4.0.0 | 1.65081E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.55487E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7714 | likely_pathogenic | 0.8761 | pathogenic | -1.868 | Destabilizing | 0.996 | D | 0.721 | prob.delet. | D | 0.732730846 | None | None | N |
| E/C | 0.9734 | likely_pathogenic | 0.9877 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| E/D | 0.7568 | likely_pathogenic | 0.8747 | pathogenic | -1.782 | Destabilizing | 0.998 | D | 0.655 | neutral | D | 0.564289855 | None | None | N |
| E/F | 0.9727 | likely_pathogenic | 0.9897 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| E/G | 0.7967 | likely_pathogenic | 0.8878 | pathogenic | -2.24 | Highly Destabilizing | 0.999 | D | 0.785 | deleterious | D | 0.735445745 | None | None | N |
| E/H | 0.9137 | likely_pathogenic | 0.9541 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| E/I | 0.9342 | likely_pathogenic | 0.9756 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| E/K | 0.7606 | likely_pathogenic | 0.8653 | pathogenic | -1.853 | Destabilizing | 0.992 | D | 0.66 | neutral | D | 0.692420784 | None | None | N |
| E/L | 0.9129 | likely_pathogenic | 0.9644 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| E/M | 0.914 | likely_pathogenic | 0.9655 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| E/N | 0.924 | likely_pathogenic | 0.9708 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| E/P | 0.9988 | likely_pathogenic | 0.9994 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| E/Q | 0.3654 | ambiguous | 0.4898 | ambiguous | -1.721 | Destabilizing | 0.957 | D | 0.368 | neutral | D | 0.535430345 | None | None | N |
| E/R | 0.8285 | likely_pathogenic | 0.8904 | pathogenic | -1.627 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| E/S | 0.7529 | likely_pathogenic | 0.8637 | pathogenic | -2.661 | Highly Destabilizing | 0.997 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/T | 0.8669 | likely_pathogenic | 0.9362 | pathogenic | -2.306 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| E/V | 0.8515 | likely_pathogenic | 0.9371 | pathogenic | -1.135 | Destabilizing | 0.999 | D | 0.792 | deleterious | D | 0.696845028 | None | None | N |
| E/W | 0.984 | likely_pathogenic | 0.9914 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| E/Y | 0.956 | likely_pathogenic | 0.982 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.857 | deleterious | 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.