Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31195 | 93808;93809;93810 | chr2:178548043;178548042;178548041 | chr2:179412770;179412769;179412768 |
| N2AB | 29554 | 88885;88886;88887 | chr2:178548043;178548042;178548041 | chr2:179412770;179412769;179412768 |
| N2A | 28627 | 86104;86105;86106 | chr2:178548043;178548042;178548041 | chr2:179412770;179412769;179412768 |
| N2B | 22130 | 66613;66614;66615 | chr2:178548043;178548042;178548041 | chr2:179412770;179412769;179412768 |
| Novex-1 | 22255 | 66988;66989;66990 | chr2:178548043;178548042;178548041 | chr2:179412770;179412769;179412768 |
| Novex-2 | 22322 | 67189;67190;67191 | chr2:178548043;178548042;178548041 | chr2:179412770;179412769;179412768 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.999 | N | 0.755 | 0.251 | 0.143124449307 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/N | None | None | 0.999 | D | 0.739 | 0.353 | 0.343101102393 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99436E-07 | 0 | 0 |
| S/T | None | None | 0.999 | N | 0.742 | 0.404 | 0.30921473904 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99436E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.618 | likely_pathogenic | 0.5917 | pathogenic | -0.85 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/C | 0.8416 | likely_pathogenic | 0.7955 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.53874983 | None | None | N |
| S/D | 0.9914 | likely_pathogenic | 0.9901 | pathogenic | -1.811 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| S/E | 0.9972 | likely_pathogenic | 0.9957 | pathogenic | -1.687 | Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| S/F | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| S/G | 0.1722 | likely_benign | 0.1673 | benign | -1.179 | Destabilizing | 0.999 | D | 0.755 | deleterious | N | 0.479469336 | None | None | N |
| S/H | 0.9939 | likely_pathogenic | 0.9922 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| S/I | 0.9965 | likely_pathogenic | 0.9947 | pathogenic | -0.042 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.527140035 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -0.888 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| S/L | 0.9776 | likely_pathogenic | 0.967 | pathogenic | -0.042 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| S/M | 0.9904 | likely_pathogenic | 0.9862 | pathogenic | -0.052 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| S/N | 0.9787 | likely_pathogenic | 0.9728 | pathogenic | -1.357 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | D | 0.537735871 | None | None | N |
| S/P | 0.9959 | likely_pathogenic | 0.9935 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| S/Q | 0.9957 | likely_pathogenic | 0.994 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| S/R | 0.9982 | likely_pathogenic | 0.9973 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.526633056 | None | None | N |
| S/T | 0.8608 | likely_pathogenic | 0.8265 | pathogenic | -1.07 | Destabilizing | 0.999 | D | 0.742 | deleterious | N | 0.518617658 | None | None | N |
| S/V | 0.9945 | likely_pathogenic | 0.9917 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| S/W | 0.997 | likely_pathogenic | 0.9957 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| S/Y | 0.9959 | likely_pathogenic | 0.9946 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.9 | 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.