Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20280 | 61063;61064;61065 | chr2:178590887;178590886;178590885 | chr2:179455614;179455613;179455612 |
| N2AB | 18639 | 56140;56141;56142 | chr2:178590887;178590886;178590885 | chr2:179455614;179455613;179455612 |
| N2A | 17712 | 53359;53360;53361 | chr2:178590887;178590886;178590885 | chr2:179455614;179455613;179455612 |
| N2B | 11215 | 33868;33869;33870 | chr2:178590887;178590886;178590885 | chr2:179455614;179455613;179455612 |
| Novex-1 | 11340 | 34243;34244;34245 | chr2:178590887;178590886;178590885 | chr2:179455614;179455613;179455612 |
| Novex-2 | 11407 | 34444;34445;34446 | chr2:178590887;178590886;178590885 | chr2:179455614;179455613;179455612 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1172859699  |
-1.178 | 0.061 | N | 0.164 | 0.141 | 0.438806408302 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1172859699 |
-1.178 | 0.061 | N | 0.164 | 0.141 | 0.438806408302 | gnomAD-4.0.0 | 4.79232E-06 | None | None | None | None | N | None | 5.66893E-05 | 2.28938E-05 | None | 0 | 0 | None | 0 | 0 | 2.87429E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3564 | ambiguous | 0.327 | benign | -1.382 | Destabilizing | 0.061 | N | 0.164 | neutral | N | 0.472247867 | None | None | N |
| V/C | 0.823 | likely_pathogenic | 0.8038 | pathogenic | -1.301 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| V/D | 0.9382 | likely_pathogenic | 0.9345 | pathogenic | -0.587 | Destabilizing | 0.92 | D | 0.688 | prob.neutral | N | 0.492558275 | None | None | N |
| V/E | 0.892 | likely_pathogenic | 0.8842 | pathogenic | -0.525 | Destabilizing | 0.939 | D | 0.604 | neutral | None | None | None | None | N |
| V/F | 0.4876 | ambiguous | 0.4898 | ambiguous | -0.953 | Destabilizing | 0.996 | D | 0.648 | neutral | N | 0.483298202 | None | None | N |
| V/G | 0.6095 | likely_pathogenic | 0.5917 | pathogenic | -1.76 | Destabilizing | 0.704 | D | 0.581 | neutral | N | 0.506521473 | None | None | N |
| V/H | 0.9589 | likely_pathogenic | 0.9578 | pathogenic | -1.377 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/I | 0.0853 | likely_benign | 0.0847 | benign | -0.426 | Destabilizing | 0.906 | D | 0.555 | neutral | N | 0.462937737 | None | None | N |
| V/K | 0.9251 | likely_pathogenic | 0.9219 | pathogenic | -1.022 | Destabilizing | 0.939 | D | 0.609 | neutral | None | None | None | None | N |
| V/L | 0.4142 | ambiguous | 0.3944 | ambiguous | -0.426 | Destabilizing | 0.826 | D | 0.522 | neutral | N | 0.507824665 | None | None | N |
| V/M | 0.368 | ambiguous | 0.3646 | ambiguous | -0.566 | Destabilizing | 0.997 | D | 0.575 | neutral | None | None | None | None | N |
| V/N | 0.8512 | likely_pathogenic | 0.8407 | pathogenic | -0.916 | Destabilizing | 0.982 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/P | 0.602 | likely_pathogenic | 0.5462 | ambiguous | -0.709 | Destabilizing | 0.046 | N | 0.435 | neutral | None | None | None | None | N |
| V/Q | 0.8924 | likely_pathogenic | 0.8856 | pathogenic | -0.927 | Destabilizing | 0.991 | D | 0.664 | neutral | None | None | None | None | N |
| V/R | 0.8963 | likely_pathogenic | 0.8913 | pathogenic | -0.787 | Destabilizing | 0.991 | D | 0.694 | prob.neutral | None | None | None | None | N |
| V/S | 0.6518 | likely_pathogenic | 0.6144 | pathogenic | -1.619 | Destabilizing | 0.373 | N | 0.439 | neutral | None | None | None | None | N |
| V/T | 0.5071 | ambiguous | 0.4857 | ambiguous | -1.413 | Destabilizing | 0.759 | D | 0.553 | neutral | None | None | None | None | N |
| V/W | 0.9758 | likely_pathogenic | 0.9727 | pathogenic | -1.144 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/Y | 0.8991 | likely_pathogenic | 0.8956 | pathogenic | -0.812 | Destabilizing | 0.997 | D | 0.655 | 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.