Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6767 | 20524;20525;20526 | chr2:178726023;178726022;178726021 | chr2:179590750;179590749;179590748 |
| N2AB | 6450 | 19573;19574;19575 | chr2:178726023;178726022;178726021 | chr2:179590750;179590749;179590748 |
| N2A | 5523 | 16792;16793;16794 | chr2:178726023;178726022;178726021 | chr2:179590750;179590749;179590748 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/H | rs766549840  |
-1.292 | 0.984 | D | 0.659 | 0.687 | 0.804154578487 | gnomAD-2.1.1 | 4.46E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 4.19854E-04 | None | 0 | 0 | 0 |
| P/H | rs766549840 |
-1.292 | 0.984 | D | 0.659 | 0.687 | 0.804154578487 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.22148E-04 | 0 |
| P/H | rs766549840 |
-1.292 | 0.984 | D | 0.659 | 0.687 | 0.804154578487 | gnomAD-4.0.0 | 2.47428E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.77925E-04 | 1.6948E-05 |
| P/S | rs1322204022 |
None | 0.217 | D | 0.657 | 0.448 | 0.349429436713 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1322204022 |
None | 0.217 | D | 0.657 | 0.448 | 0.349429436713 | gnomAD-4.0.0 | 1.95822E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.63778E-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 | 0.2007 | likely_benign | 0.1999 | benign | -1.261 | Destabilizing | 0.001 | N | 0.423 | neutral | D | 0.579446824 | None | None | I |
| P/C | 0.6791 | likely_pathogenic | 0.7081 | pathogenic | -0.737 | Destabilizing | 0.85 | D | 0.706 | prob.neutral | None | None | None | None | I |
| P/D | 0.8591 | likely_pathogenic | 0.8716 | pathogenic | -0.855 | Destabilizing | 0.154 | N | 0.67 | neutral | None | None | None | None | I |
| P/E | 0.6888 | likely_pathogenic | 0.7146 | pathogenic | -0.835 | Destabilizing | 0.224 | N | 0.678 | prob.neutral | None | None | None | None | I |
| P/F | 0.6766 | likely_pathogenic | 0.6941 | pathogenic | -0.864 | Destabilizing | 0.902 | D | 0.726 | prob.delet. | None | None | None | None | I |
| P/G | 0.6418 | likely_pathogenic | 0.6492 | pathogenic | -1.596 | Destabilizing | 0.21 | N | 0.642 | neutral | None | None | None | None | I |
| P/H | 0.4181 | ambiguous | 0.4641 | ambiguous | -1.173 | Destabilizing | 0.984 | D | 0.659 | neutral | D | 0.605993957 | None | None | I |
| P/I | 0.4327 | ambiguous | 0.4491 | ambiguous | -0.439 | Destabilizing | 0.822 | D | 0.677 | prob.neutral | None | None | None | None | I |
| P/K | 0.6119 | likely_pathogenic | 0.6734 | pathogenic | -1.024 | Destabilizing | 0.902 | D | 0.673 | neutral | None | None | None | None | I |
| P/L | 0.1994 | likely_benign | 0.2009 | benign | -0.439 | Destabilizing | 0.006 | N | 0.496 | neutral | N | 0.494586875 | None | None | I |
| P/M | 0.5502 | ambiguous | 0.5504 | ambiguous | -0.349 | Destabilizing | 0.169 | N | 0.58 | neutral | None | None | None | None | I |
| P/N | 0.7148 | likely_pathogenic | 0.7432 | pathogenic | -0.801 | Destabilizing | 0.699 | D | 0.681 | prob.neutral | None | None | None | None | I |
| P/Q | 0.3928 | ambiguous | 0.4248 | ambiguous | -0.905 | Destabilizing | 0.875 | D | 0.696 | prob.neutral | None | None | None | None | I |
| P/R | 0.4472 | ambiguous | 0.4948 | ambiguous | -0.613 | Destabilizing | 0.874 | D | 0.688 | prob.neutral | D | 0.589338823 | None | None | I |
| P/S | 0.3271 | likely_benign | 0.3374 | benign | -1.35 | Destabilizing | 0.217 | N | 0.657 | neutral | D | 0.546247279 | None | None | I |
| P/T | 0.2784 | likely_benign | 0.2972 | benign | -1.214 | Destabilizing | 0.11 | N | 0.648 | neutral | D | 0.583827592 | None | None | I |
| P/V | 0.3571 | ambiguous | 0.3685 | ambiguous | -0.677 | Destabilizing | 0.187 | N | 0.62 | neutral | None | None | None | None | I |
| P/W | 0.8738 | likely_pathogenic | 0.8879 | pathogenic | -1.096 | Destabilizing | 0.995 | D | 0.708 | prob.delet. | None | None | None | None | I |
| P/Y | 0.7088 | likely_pathogenic | 0.739 | pathogenic | -0.777 | Destabilizing | 0.949 | D | 0.733 | prob.delet. | 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.