Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24856 | 74791;74792;74793 | chr2:178571566;178571565;178571564 | chr2:179436293;179436292;179436291 |
| N2AB | 23215 | 69868;69869;69870 | chr2:178571566;178571565;178571564 | chr2:179436293;179436292;179436291 |
| N2A | 22288 | 67087;67088;67089 | chr2:178571566;178571565;178571564 | chr2:179436293;179436292;179436291 |
| N2B | 15791 | 47596;47597;47598 | chr2:178571566;178571565;178571564 | chr2:179436293;179436292;179436291 |
| Novex-1 | 15916 | 47971;47972;47973 | chr2:178571566;178571565;178571564 | chr2:179436293;179436292;179436291 |
| Novex-2 | 15983 | 48172;48173;48174 | chr2:178571566;178571565;178571564 | chr2:179436293;179436292;179436291 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.793 | 0.524 | 0.797300456897 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | -3.139 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| W/C | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.528874781 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.164 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| W/F | 0.7929 | likely_pathogenic | 0.8037 | pathogenic | -1.947 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| W/G | 0.9871 | likely_pathogenic | 0.9862 | pathogenic | -3.333 | Highly Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.550573434 | None | None | N |
| W/H | 0.9959 | likely_pathogenic | 0.9958 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| W/I | 0.9969 | likely_pathogenic | 0.9965 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| W/L | 0.9872 | likely_pathogenic | 0.9865 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.511958614 | None | None | N |
| W/M | 0.9971 | likely_pathogenic | 0.9968 | pathogenic | -1.816 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/N | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| W/P | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -2.676 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.551080413 | None | None | N |
| W/S | 0.9903 | likely_pathogenic | 0.9892 | pathogenic | -2.457 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.526175302 | None | None | N |
| W/T | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| W/V | 0.9961 | likely_pathogenic | 0.9957 | pathogenic | -2.676 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/Y | 0.9157 | likely_pathogenic | 0.9201 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.625 | neutral | 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.