Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27990 | 84193;84194;84195 | chr2:178562164;178562163;178562162 | chr2:179426891;179426890;179426889 |
| N2AB | 26349 | 79270;79271;79272 | chr2:178562164;178562163;178562162 | chr2:179426891;179426890;179426889 |
| N2A | 25422 | 76489;76490;76491 | chr2:178562164;178562163;178562162 | chr2:179426891;179426890;179426889 |
| N2B | 18925 | 56998;56999;57000 | chr2:178562164;178562163;178562162 | chr2:179426891;179426890;179426889 |
| Novex-1 | 19050 | 57373;57374;57375 | chr2:178562164;178562163;178562162 | chr2:179426891;179426890;179426889 |
| Novex-2 | 19117 | 57574;57575;57576 | chr2:178562164;178562163;178562162 | chr2:179426891;179426890;179426889 |
| 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/S | None | None | 1.0 | D | 0.719 | 0.583 | 0.620635632974 | gnomAD-4.0.0 | 1.20035E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31253E-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 | 0.9254 | likely_pathogenic | 0.9607 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.568368424 | None | None | I |
| P/C | 0.989 | likely_pathogenic | 0.9949 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| P/D | 0.9871 | likely_pathogenic | 0.9944 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| P/E | 0.9796 | likely_pathogenic | 0.9913 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| P/F | 0.9932 | likely_pathogenic | 0.9968 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| P/G | 0.9627 | likely_pathogenic | 0.9799 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| P/H | 0.9668 | likely_pathogenic | 0.9829 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.630583768 | None | None | I |
| P/I | 0.9617 | likely_pathogenic | 0.9797 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| P/K | 0.9726 | likely_pathogenic | 0.9854 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| P/L | 0.9061 | likely_pathogenic | 0.9484 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.614332243 | None | None | I |
| P/M | 0.9805 | likely_pathogenic | 0.9893 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| P/N | 0.9753 | likely_pathogenic | 0.9882 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| P/Q | 0.9583 | likely_pathogenic | 0.9804 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| P/R | 0.9431 | likely_pathogenic | 0.9705 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.63018016 | None | None | I |
| P/S | 0.9588 | likely_pathogenic | 0.9816 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.567861445 | None | None | I |
| P/T | 0.9264 | likely_pathogenic | 0.9622 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.63018016 | None | None | I |
| P/V | 0.9393 | likely_pathogenic | 0.9652 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| P/W | 0.9963 | likely_pathogenic | 0.9984 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| P/Y | 0.9891 | likely_pathogenic | 0.9949 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
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.