Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28798 | 86617;86618;86619 | chr2:178559740;178559739;178559738 | chr2:179424467;179424466;179424465 |
| N2AB | 27157 | 81694;81695;81696 | chr2:178559740;178559739;178559738 | chr2:179424467;179424466;179424465 |
| N2A | 26230 | 78913;78914;78915 | chr2:178559740;178559739;178559738 | chr2:179424467;179424466;179424465 |
| N2B | 19733 | 59422;59423;59424 | chr2:178559740;178559739;178559738 | chr2:179424467;179424466;179424465 |
| Novex-1 | 19858 | 59797;59798;59799 | chr2:178559740;178559739;178559738 | chr2:179424467;179424466;179424465 |
| Novex-2 | 19925 | 59998;59999;60000 | chr2:178559740;178559739;178559738 | chr2:179424467;179424466;179424465 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs748375797  |
-0.295 | 0.939 | N | 0.432 | 0.288 | 0.533035250729 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| R/G | rs748375797 |
-0.295 | 0.939 | N | 0.432 | 0.288 | 0.533035250729 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/G | rs748375797 |
-0.295 | 0.939 | N | 0.432 | 0.288 | 0.533035250729 | gnomAD-4.0.0 | 6.57203E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 0 | 0 |
| R/I | None | None | 0.991 | N | 0.573 | 0.409 | 0.738858788324 | gnomAD-4.0.0 | 1.62837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.49058E-05 | 0 |
| R/K | rs781458689 |
0.095 | 0.76 | N | 0.507 | 0.307 | 0.229264304666 | gnomAD-2.1.1 | 8.45E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.85E-05 | 0 |
| R/K | rs781458689 |
0.095 | 0.76 | N | 0.507 | 0.307 | 0.229264304666 | gnomAD-4.0.0 | 7.82918E-06 | None | None | None | None | N | None | 3.39121E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.74778E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.6436 | likely_pathogenic | 0.7809 | pathogenic | -0.717 | Destabilizing | 0.953 | D | 0.479 | neutral | None | None | None | None | N |
| R/C | 0.3141 | likely_benign | 0.4112 | ambiguous | -0.671 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| R/D | 0.8422 | likely_pathogenic | 0.904 | pathogenic | -0.01 | Destabilizing | 0.986 | D | 0.457 | neutral | None | None | None | None | N |
| R/E | 0.6007 | likely_pathogenic | 0.7225 | pathogenic | 0.103 | Stabilizing | 0.91 | D | 0.493 | neutral | None | None | None | None | N |
| R/F | 0.8074 | likely_pathogenic | 0.8802 | pathogenic | -0.727 | Destabilizing | 0.998 | D | 0.567 | neutral | None | None | None | None | N |
| R/G | 0.5881 | likely_pathogenic | 0.7208 | pathogenic | -1.003 | Destabilizing | 0.939 | D | 0.432 | neutral | N | 0.479235008 | None | None | N |
| R/H | 0.1761 | likely_benign | 0.2273 | benign | -1.423 | Destabilizing | 0.993 | D | 0.501 | neutral | None | None | None | None | N |
| R/I | 0.5184 | ambiguous | 0.6341 | pathogenic | 0.039 | Stabilizing | 0.991 | D | 0.573 | neutral | N | 0.508392853 | None | None | N |
| R/K | 0.173 | likely_benign | 0.2219 | benign | -0.611 | Destabilizing | 0.76 | D | 0.507 | neutral | N | 0.472496604 | None | None | N |
| R/L | 0.4694 | ambiguous | 0.591 | pathogenic | 0.039 | Stabilizing | 0.953 | D | 0.432 | neutral | None | None | None | None | N |
| R/M | 0.553 | ambiguous | 0.6701 | pathogenic | -0.255 | Destabilizing | 0.998 | D | 0.454 | neutral | None | None | None | None | N |
| R/N | 0.7628 | likely_pathogenic | 0.8573 | pathogenic | -0.15 | Destabilizing | 0.986 | D | 0.491 | neutral | None | None | None | None | N |
| R/P | 0.9358 | likely_pathogenic | 0.96 | pathogenic | -0.192 | Destabilizing | 0.993 | D | 0.503 | neutral | None | None | None | None | N |
| R/Q | 0.165 | likely_benign | 0.2205 | benign | -0.326 | Destabilizing | 0.386 | N | 0.314 | neutral | None | None | None | None | N |
| R/S | 0.7337 | likely_pathogenic | 0.842 | pathogenic | -0.897 | Destabilizing | 0.939 | D | 0.475 | neutral | N | 0.473398884 | None | None | N |
| R/T | 0.4738 | ambiguous | 0.6249 | pathogenic | -0.602 | Destabilizing | 0.982 | D | 0.453 | neutral | N | 0.487059368 | None | None | N |
| R/V | 0.5667 | likely_pathogenic | 0.6865 | pathogenic | -0.192 | Destabilizing | 0.993 | D | 0.574 | neutral | None | None | None | None | N |
| R/W | 0.3595 | ambiguous | 0.4344 | ambiguous | -0.462 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| R/Y | 0.6314 | likely_pathogenic | 0.7263 | pathogenic | -0.125 | Destabilizing | 0.998 | D | 0.499 | 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.