Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16835 | 50728;50729;50730 | chr2:178611806;178611805;178611804 | chr2:179476533;179476532;179476531 |
| N2AB | 15194 | 45805;45806;45807 | chr2:178611806;178611805;178611804 | chr2:179476533;179476532;179476531 |
| N2A | 14267 | 43024;43025;43026 | chr2:178611806;178611805;178611804 | chr2:179476533;179476532;179476531 |
| N2B | 7770 | 23533;23534;23535 | chr2:178611806;178611805;178611804 | chr2:179476533;179476532;179476531 |
| Novex-1 | 7895 | 23908;23909;23910 | chr2:178611806;178611805;178611804 | chr2:179476533;179476532;179476531 |
| Novex-2 | 7962 | 24109;24110;24111 | chr2:178611806;178611805;178611804 | chr2:179476533;179476532;179476531 |
| 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/A | None | None | 1.0 | D | 0.699 | 0.668 | 0.481172606772 | gnomAD-4.0.0 | 1.5934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43509E-05 | 0 |
| G/S | None | None | 1.0 | N | 0.815 | 0.466 | 0.350746614512 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9191 | likely_pathogenic | 0.9211 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.738077841 | None | None | N |
| G/C | 0.9842 | likely_pathogenic | 0.9821 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.739879664 | None | None | N |
| G/D | 0.9963 | likely_pathogenic | 0.9961 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.739340128 | None | None | N |
| G/E | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| G/F | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/H | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/K | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| G/L | 0.997 | likely_pathogenic | 0.997 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/M | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/N | 0.9963 | likely_pathogenic | 0.9967 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| G/Q | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/R | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.700060304 | None | None | N |
| G/S | 0.8803 | likely_pathogenic | 0.891 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.494238407 | None | None | N |
| G/T | 0.9901 | likely_pathogenic | 0.991 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| G/V | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.739340128 | None | None | N |
| G/W | 0.9971 | likely_pathogenic | 0.997 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Y | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.875 | 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.