Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 172 | 739;740;741 | chr2:178800464;178800463;178800462 | chr2:179665191;179665190;179665189 |
| N2AB | 172 | 739;740;741 | chr2:178800464;178800463;178800462 | chr2:179665191;179665190;179665189 |
| N2A | 172 | 739;740;741 | chr2:178800464;178800463;178800462 | chr2:179665191;179665190;179665189 |
| N2B | 172 | 739;740;741 | chr2:178800464;178800463;178800462 | chr2:179665191;179665190;179665189 |
| Novex-1 | 172 | 739;740;741 | chr2:178800464;178800463;178800462 | chr2:179665191;179665190;179665189 |
| Novex-2 | 172 | 739;740;741 | chr2:178800464;178800463;178800462 | chr2:179665191;179665190;179665189 |
| Novex-3 | 172 | 739;740;741 | chr2:178800464;178800463;178800462 | chr2:179665191;179665190;179665189 |
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 | D | 0.799 | 0.749 | 0.886387458693 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -1.604(TCAP) | 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 | 0.8383 | likely_pathogenic | 0.8726 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.633954368 | None | -0.709(TCAP) | N |
| G/C | 0.9908 | likely_pathogenic | 0.9925 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | -1.409(TCAP) | N |
| G/D | 0.9931 | likely_pathogenic | 0.995 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | -1.408(TCAP) | N |
| G/E | 0.9961 | likely_pathogenic | 0.9972 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.819216256 | None | -1.604(TCAP) | N |
| G/F | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | -1.009(TCAP) | N |
| G/H | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | -0.322(TCAP) | N |
| G/I | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | -1.203(TCAP) | N |
| G/K | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -1.733(TCAP) | N |
| G/L | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | -1.203(TCAP) | N |
| G/M | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | -1.253(TCAP) | N |
| G/N | 0.9962 | likely_pathogenic | 0.9976 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | -1.309(TCAP) | N |
| G/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | -1.035(TCAP) | N |
| G/Q | 0.9961 | likely_pathogenic | 0.9971 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | -1.437(TCAP) | N |
| G/R | 0.9943 | likely_pathogenic | 0.9956 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.819216256 | None | -1.83(TCAP) | N |
| G/S | 0.9048 | likely_pathogenic | 0.9341 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | -0.88(TCAP) | N |
| G/T | 0.9918 | likely_pathogenic | 0.9938 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | -1.103(TCAP) | N |
| G/V | 0.995 | likely_pathogenic | 0.9962 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.819216256 | None | -1.035(TCAP) | N |
| G/W | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.482 | Destabilizing | 0.995 | D | 0.77 | deleterious | D | 0.818598542 | None | -1.224(TCAP) | N |
| G/Y | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -0.995(TCAP) | 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.