Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25139 | 75640;75641;75642 | chr2:178570717;178570716;178570715 | chr2:179435444;179435443;179435442 |
| N2AB | 23498 | 70717;70718;70719 | chr2:178570717;178570716;178570715 | chr2:179435444;179435443;179435442 |
| N2A | 22571 | 67936;67937;67938 | chr2:178570717;178570716;178570715 | chr2:179435444;179435443;179435442 |
| N2B | 16074 | 48445;48446;48447 | chr2:178570717;178570716;178570715 | chr2:179435444;179435443;179435442 |
| Novex-1 | 16199 | 48820;48821;48822 | chr2:178570717;178570716;178570715 | chr2:179435444;179435443;179435442 |
| Novex-2 | 16266 | 49021;49022;49023 | chr2:178570717;178570716;178570715 | chr2:179435444;179435443;179435442 |
| 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 | rs771430495  |
-0.152 | 1.0 | D | 0.779 | 0.747 | 0.856178836396 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| P/L | rs771430495 |
-0.152 | 1.0 | D | 0.779 | 0.747 | 0.856178836396 | gnomAD-4.0.0 | 2.73714E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59829E-06 | 0 | 0 |
| P/S | rs1462179644 |
-0.8 | 1.0 | D | 0.763 | 0.761 | 0.68571362967 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| P/S | rs1462179644 |
-0.8 | 1.0 | D | 0.763 | 0.761 | 0.68571362967 | gnomAD-4.0.0 | 1.59164E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85927E-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 | 0.9691 | likely_pathogenic | 0.9713 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.578243472 | None | None | I |
| P/C | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| P/D | 0.9928 | likely_pathogenic | 0.993 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| P/E | 0.9919 | likely_pathogenic | 0.9924 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/F | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| P/G | 0.9886 | likely_pathogenic | 0.9885 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/H | 0.9895 | likely_pathogenic | 0.9902 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| P/I | 0.9837 | likely_pathogenic | 0.9843 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| P/K | 0.9938 | likely_pathogenic | 0.9933 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| P/L | 0.9628 | likely_pathogenic | 0.9647 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.644513647 | None | None | I |
| P/M | 0.9894 | likely_pathogenic | 0.9911 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| P/N | 0.9911 | likely_pathogenic | 0.9908 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/Q | 0.9905 | likely_pathogenic | 0.9905 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.578243472 | None | None | I |
| P/R | 0.9865 | likely_pathogenic | 0.9858 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.644110039 | None | None | I |
| P/S | 0.9912 | likely_pathogenic | 0.9913 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.577736493 | None | None | I |
| P/T | 0.9692 | likely_pathogenic | 0.9705 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.644110039 | None | None | I |
| P/V | 0.9694 | likely_pathogenic | 0.9714 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/W | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| P/Y | 0.9961 | likely_pathogenic | 0.9963 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.818 | 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.