Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25540 | 76843;76844;76845 | chr2:178569514;178569513;178569512 | chr2:179434241;179434240;179434239 |
| N2AB | 23899 | 71920;71921;71922 | chr2:178569514;178569513;178569512 | chr2:179434241;179434240;179434239 |
| N2A | 22972 | 69139;69140;69141 | chr2:178569514;178569513;178569512 | chr2:179434241;179434240;179434239 |
| N2B | 16475 | 49648;49649;49650 | chr2:178569514;178569513;178569512 | chr2:179434241;179434240;179434239 |
| Novex-1 | 16600 | 50023;50024;50025 | chr2:178569514;178569513;178569512 | chr2:179434241;179434240;179434239 |
| Novex-2 | 16667 | 50224;50225;50226 | chr2:178569514;178569513;178569512 | chr2:179434241;179434240;179434239 |
| 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/L | rs541464855  |
-0.544 | 1.0 | D | 0.787 | 0.681 | 0.757346685873 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| P/L | rs541464855 |
-0.544 | 1.0 | D | 0.787 | 0.681 | 0.757346685873 | gnomAD-4.0.0 | 6.84695E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16069E-05 | 0 |
| P/Q | rs541464855 |
-1.491 | 1.0 | D | 0.81 | 0.703 | 0.665764703453 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/Q | rs541464855 |
-1.491 | 1.0 | D | 0.81 | 0.703 | 0.665764703453 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.9685E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs541464855 |
-1.491 | 1.0 | D | 0.81 | 0.703 | 0.665764703453 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/Q | rs541464855 |
-1.491 | 1.0 | D | 0.81 | 0.703 | 0.665764703453 | gnomAD-4.0.0 | 4.96085E-06 | None | None | None | None | N | None | 0 | 1.33565E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.7435 | likely_pathogenic | 0.823 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.553654302 | None | None | N |
| P/C | 0.9866 | likely_pathogenic | 0.9912 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/F | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| P/G | 0.9904 | likely_pathogenic | 0.9936 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/H | 0.9969 | likely_pathogenic | 0.998 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/I | 0.9762 | likely_pathogenic | 0.9825 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| P/L | 0.914 | likely_pathogenic | 0.9398 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.568209704 | None | None | N |
| P/M | 0.9886 | likely_pathogenic | 0.9924 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/Q | 0.9947 | likely_pathogenic | 0.9965 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.572772516 | None | None | N |
| P/R | 0.9932 | likely_pathogenic | 0.995 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.572772516 | None | None | N |
| P/S | 0.9797 | likely_pathogenic | 0.9877 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.560909231 | None | None | N |
| P/T | 0.9604 | likely_pathogenic | 0.9745 | pathogenic | -1.454 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.560909231 | None | None | N |
| P/V | 0.9345 | likely_pathogenic | 0.9506 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.787 | 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.