Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26521 | 79786;79787;79788 | chr2:178566571;178566570;178566569 | chr2:179431298;179431297;179431296 |
| N2AB | 24880 | 74863;74864;74865 | chr2:178566571;178566570;178566569 | chr2:179431298;179431297;179431296 |
| N2A | 23953 | 72082;72083;72084 | chr2:178566571;178566570;178566569 | chr2:179431298;179431297;179431296 |
| N2B | 17456 | 52591;52592;52593 | chr2:178566571;178566570;178566569 | chr2:179431298;179431297;179431296 |
| Novex-1 | 17581 | 52966;52967;52968 | chr2:178566571;178566570;178566569 | chr2:179431298;179431297;179431296 |
| Novex-2 | 17648 | 53167;53168;53169 | chr2:178566571;178566570;178566569 | chr2:179431298;179431297;179431296 |
| 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 | None | None | 1.0 | N | 0.896 | 0.63 | 0.449187354989 | gnomAD-4.0.0 | 4.77957E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.90723E-05 | 0 | 2.85874E-06 | 1.43275E-05 | 0 |
| G/R | None | None | 1.0 | N | 0.887 | 0.697 | 0.59300205564 | gnomAD-4.0.0 | 2.05372E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69857E-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 | 0.4053 | ambiguous | 0.4212 | ambiguous | -0.543 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.487348856 | None | None | N |
| G/C | 0.6737 | likely_pathogenic | 0.7387 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/D | 0.939 | likely_pathogenic | 0.9644 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/E | 0.9483 | likely_pathogenic | 0.9676 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.896 | deleterious | N | 0.473092488 | None | None | N |
| G/F | 0.9788 | likely_pathogenic | 0.9833 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/H | 0.948 | likely_pathogenic | 0.9667 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/I | 0.972 | likely_pathogenic | 0.9796 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/K | 0.9785 | likely_pathogenic | 0.987 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/L | 0.9564 | likely_pathogenic | 0.9655 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/M | 0.9681 | likely_pathogenic | 0.9737 | pathogenic | -0.039 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/N | 0.9 | likely_pathogenic | 0.9391 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/P | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/Q | 0.9365 | likely_pathogenic | 0.9555 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/R | 0.9393 | likely_pathogenic | 0.9588 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.887 | deleterious | N | 0.491703722 | None | None | N |
| G/S | 0.3492 | ambiguous | 0.3873 | ambiguous | -1.177 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| G/T | 0.8368 | likely_pathogenic | 0.8668 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/V | 0.9357 | likely_pathogenic | 0.9503 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.522849804 | None | None | N |
| G/W | 0.9555 | likely_pathogenic | 0.9721 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/Y | 0.9391 | likely_pathogenic | 0.9583 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.871 | 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.