Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16755 | 50488;50489;50490 | chr2:178612148;178612147;178612146 | chr2:179476875;179476874;179476873 |
| N2AB | 15114 | 45565;45566;45567 | chr2:178612148;178612147;178612146 | chr2:179476875;179476874;179476873 |
| N2A | 14187 | 42784;42785;42786 | chr2:178612148;178612147;178612146 | chr2:179476875;179476874;179476873 |
| N2B | 7690 | 23293;23294;23295 | chr2:178612148;178612147;178612146 | chr2:179476875;179476874;179476873 |
| Novex-1 | 7815 | 23668;23669;23670 | chr2:178612148;178612147;178612146 | chr2:179476875;179476874;179476873 |
| Novex-2 | 7882 | 23869;23870;23871 | chr2:178612148;178612147;178612146 | chr2:179476875;179476874;179476873 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs770404461  |
-1.728 | 1.0 | D | 0.933 | 0.578 | 0.753793968825 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.72E-05 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs770404461 |
-1.728 | 1.0 | D | 0.933 | 0.578 | 0.753793968825 | gnomAD-4.0.0 | 1.59755E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79908E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.877 | 0.587 | 0.660835337401 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9092 | likely_pathogenic | 0.9136 | pathogenic | -2.322 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.657831767 | None | None | N |
| P/C | 0.9929 | likely_pathogenic | 0.9948 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.14 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.848 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/G | 0.9963 | likely_pathogenic | 0.9958 | pathogenic | -2.875 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/H | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -2.679 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.784846624 | None | None | N |
| P/I | 0.9887 | likely_pathogenic | 0.9936 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/L | 0.9759 | likely_pathogenic | 0.9817 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.916 | deleterious | D | 0.749217612 | None | None | N |
| P/M | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/N | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| P/Q | 0.9985 | likely_pathogenic | 0.9981 | pathogenic | -1.935 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/R | 0.9972 | likely_pathogenic | 0.9968 | pathogenic | -1.757 | Destabilizing | 1.0 | D | 0.933 | deleterious | D | 0.784783787 | None | None | N |
| P/S | 0.9921 | likely_pathogenic | 0.9912 | pathogenic | -2.739 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.749217612 | None | None | N |
| P/T | 0.9877 | likely_pathogenic | 0.9888 | pathogenic | -2.309 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.784783787 | None | None | N |
| P/V | 0.9589 | likely_pathogenic | 0.9783 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.928 | 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.