Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1524 | 4795;4796;4797 | chr2:178777495;178777494;178777493 | chr2:179642222;179642221;179642220 |
| N2AB | 1524 | 4795;4796;4797 | chr2:178777495;178777494;178777493 | chr2:179642222;179642221;179642220 |
| N2A | 1524 | 4795;4796;4797 | chr2:178777495;178777494;178777493 | chr2:179642222;179642221;179642220 |
| N2B | 1478 | 4657;4658;4659 | chr2:178777495;178777494;178777493 | chr2:179642222;179642221;179642220 |
| Novex-1 | 1478 | 4657;4658;4659 | chr2:178777495;178777494;178777493 | chr2:179642222;179642221;179642220 |
| Novex-2 | 1478 | 4657;4658;4659 | chr2:178777495;178777494;178777493 | chr2:179642222;179642221;179642220 |
| Novex-3 | 1524 | 4795;4796;4797 | chr2:178777495;178777494;178777493 | chr2:179642222;179642221;179642220 |
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 | rs1244905909  |
-0.864 | 1.0 | D | 0.767 | 0.902 | 0.730117484633 | gnomAD-2.1.1 | 7.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.0929E-04 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1244905909 |
-0.864 | 1.0 | D | 0.767 | 0.902 | 0.730117484633 | gnomAD-4.0.0 | 9.54596E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.6663E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8633 | likely_pathogenic | 0.8869 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.794250478 | None | None | N |
| D/C | 0.9695 | likely_pathogenic | 0.9698 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/E | 0.8391 | likely_pathogenic | 0.8597 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.563 | neutral | D | 0.739168899 | None | None | N |
| D/F | 0.9781 | likely_pathogenic | 0.98 | pathogenic | 0.699 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/G | 0.9149 | likely_pathogenic | 0.9342 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.793480479 | None | None | N |
| D/H | 0.8648 | likely_pathogenic | 0.8716 | pathogenic | 0.13 | Stabilizing | 1.0 | D | 0.818 | deleterious | D | 0.685189671 | None | None | N |
| D/I | 0.9647 | likely_pathogenic | 0.9691 | pathogenic | 1.413 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/K | 0.9751 | likely_pathogenic | 0.9783 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/L | 0.9565 | likely_pathogenic | 0.9629 | pathogenic | 1.413 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/M | 0.9834 | likely_pathogenic | 0.9855 | pathogenic | 1.915 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/N | 0.5554 | ambiguous | 0.5954 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.718431217 | None | None | N |
| D/P | 0.9961 | likely_pathogenic | 0.9967 | pathogenic | 1.025 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/Q | 0.9432 | likely_pathogenic | 0.9525 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| D/R | 0.9767 | likely_pathogenic | 0.9804 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/S | 0.7149 | likely_pathogenic | 0.7632 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| D/T | 0.9312 | likely_pathogenic | 0.9425 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/V | 0.9109 | likely_pathogenic | 0.9218 | pathogenic | 1.025 | Stabilizing | 1.0 | D | 0.839 | deleterious | D | 0.826693435 | None | None | N |
| D/W | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | 0.628 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/Y | 0.8793 | likely_pathogenic | 0.8888 | pathogenic | 0.878 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.773478191 | 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.