Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26292 | 79099;79100;79101 | chr2:178567258;178567257;178567256 | chr2:179431985;179431984;179431983 |
| N2AB | 24651 | 74176;74177;74178 | chr2:178567258;178567257;178567256 | chr2:179431985;179431984;179431983 |
| N2A | 23724 | 71395;71396;71397 | chr2:178567258;178567257;178567256 | chr2:179431985;179431984;179431983 |
| N2B | 17227 | 51904;51905;51906 | chr2:178567258;178567257;178567256 | chr2:179431985;179431984;179431983 |
| Novex-1 | 17352 | 52279;52280;52281 | chr2:178567258;178567257;178567256 | chr2:179431985;179431984;179431983 |
| Novex-2 | 17419 | 52480;52481;52482 | chr2:178567258;178567257;178567256 | chr2:179431985;179431984;179431983 |
| 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/E | rs866974904  |
-0.346 | 0.997 | N | 0.801 | 0.514 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs866974904 |
-0.346 | 0.997 | N | 0.801 | 0.514 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs866974904 |
-0.346 | 0.997 | N | 0.801 | 0.514 | None | gnomAD-4.0.0 | 1.31562E-05 | None | None | None | None | N | None | 4.83162E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.4019 | ambiguous | 0.4537 | ambiguous | -0.305 | Destabilizing | 0.991 | D | 0.619 | neutral | N | 0.504887855 | None | None | N |
| G/C | 0.7045 | likely_pathogenic | 0.7474 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/D | 0.8405 | likely_pathogenic | 0.8422 | pathogenic | -0.675 | Destabilizing | 0.996 | D | 0.78 | deleterious | None | None | None | None | N |
| G/E | 0.8196 | likely_pathogenic | 0.8282 | pathogenic | -0.835 | Destabilizing | 0.997 | D | 0.801 | deleterious | N | 0.484938865 | None | None | N |
| G/F | 0.8958 | likely_pathogenic | 0.9006 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/H | 0.9512 | likely_pathogenic | 0.9554 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/I | 0.7847 | likely_pathogenic | 0.8076 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/K | 0.9355 | likely_pathogenic | 0.9454 | pathogenic | -0.867 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | N |
| G/L | 0.8382 | likely_pathogenic | 0.8553 | pathogenic | -0.475 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| G/M | 0.8865 | likely_pathogenic | 0.898 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/N | 0.8511 | likely_pathogenic | 0.8486 | pathogenic | -0.524 | Destabilizing | 0.521 | D | 0.511 | neutral | None | None | None | None | N |
| G/P | 0.9051 | likely_pathogenic | 0.9122 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/Q | 0.9135 | likely_pathogenic | 0.9251 | pathogenic | -0.81 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| G/R | 0.9327 | likely_pathogenic | 0.9442 | pathogenic | -0.391 | Destabilizing | 0.997 | D | 0.824 | deleterious | N | 0.481673635 | None | None | N |
| G/S | 0.4484 | ambiguous | 0.4738 | ambiguous | -0.653 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/T | 0.725 | likely_pathogenic | 0.7342 | pathogenic | -0.746 | Destabilizing | 0.998 | D | 0.79 | deleterious | None | None | None | None | N |
| G/V | 0.734 | likely_pathogenic | 0.7572 | pathogenic | -0.387 | Destabilizing | 0.999 | D | 0.823 | deleterious | N | 0.496121041 | None | None | N |
| G/W | 0.8894 | likely_pathogenic | 0.8971 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.525999675 | None | None | N |
| G/Y | 0.8553 | likely_pathogenic | 0.8657 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.801 | 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.