Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2421 | 7486;7487;7488 | chr2:178773907;178773906;178773905 | chr2:179638634;179638633;179638632 |
| N2AB | 2421 | 7486;7487;7488 | chr2:178773907;178773906;178773905 | chr2:179638634;179638633;179638632 |
| N2A | 2421 | 7486;7487;7488 | chr2:178773907;178773906;178773905 | chr2:179638634;179638633;179638632 |
| N2B | 2375 | 7348;7349;7350 | chr2:178773907;178773906;178773905 | chr2:179638634;179638633;179638632 |
| Novex-1 | 2375 | 7348;7349;7350 | chr2:178773907;178773906;178773905 | chr2:179638634;179638633;179638632 |
| Novex-2 | 2375 | 7348;7349;7350 | chr2:178773907;178773906;178773905 | chr2:179638634;179638633;179638632 |
| Novex-3 | 2421 | 7486;7487;7488 | chr2:178773907;178773906;178773905 | chr2:179638634;179638633;179638632 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1181070487  |
-1.12 | 1.0 | D | 0.768 | 0.962 | 0.718170957977 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1181070487 |
-1.12 | 1.0 | D | 0.768 | 0.962 | 0.718170957977 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1181070487 |
-1.12 | 1.0 | D | 0.768 | 0.962 | 0.718170957977 | gnomAD-4.0.0 | 2.02981E-06 | None | None | None | None | N | None | 1.74685E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20492E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.958 | likely_pathogenic | 0.9704 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.745306693 | None | None | N |
| D/C | 0.9904 | likely_pathogenic | 0.9929 | pathogenic | -0.073 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| D/E | 0.8863 | likely_pathogenic | 0.9084 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.577 | neutral | D | 0.70995278 | None | None | N |
| D/F | 0.9925 | likely_pathogenic | 0.995 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| D/G | 0.9604 | likely_pathogenic | 0.9717 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.744558397 | None | None | N |
| D/H | 0.9629 | likely_pathogenic | 0.9719 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.686366264 | None | None | N |
| D/I | 0.9875 | likely_pathogenic | 0.9917 | pathogenic | 0.311 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/K | 0.9915 | likely_pathogenic | 0.9934 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/L | 0.9862 | likely_pathogenic | 0.9908 | pathogenic | 0.311 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/M | 0.9891 | likely_pathogenic | 0.9925 | pathogenic | 0.648 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/N | 0.8201 | likely_pathogenic | 0.8562 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.672940596 | None | None | N |
| D/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/Q | 0.9828 | likely_pathogenic | 0.9869 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/R | 0.9948 | likely_pathogenic | 0.9963 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/S | 0.9502 | likely_pathogenic | 0.9631 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/T | 0.9807 | likely_pathogenic | 0.9861 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| D/V | 0.9663 | likely_pathogenic | 0.9781 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.812 | deleterious | D | 0.744551422 | None | None | N |
| D/W | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/Y | 0.9387 | likely_pathogenic | 0.9576 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.811 | deleterious | D | 0.7446353 | 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.