Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17887 | 53884;53885;53886 | chr2:178605636;178605635;178605634 | chr2:179470363;179470362;179470361 |
| N2AB | 16246 | 48961;48962;48963 | chr2:178605636;178605635;178605634 | chr2:179470363;179470362;179470361 |
| N2A | 15319 | 46180;46181;46182 | chr2:178605636;178605635;178605634 | chr2:179470363;179470362;179470361 |
| N2B | 8822 | 26689;26690;26691 | chr2:178605636;178605635;178605634 | chr2:179470363;179470362;179470361 |
| Novex-1 | 8947 | 27064;27065;27066 | chr2:178605636;178605635;178605634 | chr2:179470363;179470362;179470361 |
| Novex-2 | 9014 | 27265;27266;27267 | chr2:178605636;178605635;178605634 | chr2:179470363;179470362;179470361 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs771307468  |
-0.169 | 1.0 | N | 0.771 | 0.465 | 0.623225470471 | gnomAD-4.0.0 | 1.5962E-06 | None | None | None | None | I | None | 0 | 2.29032E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs749310329 |
-0.573 | 1.0 | N | 0.789 | 0.422 | 0.3349148499 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/H | rs749310329 |
-0.573 | 1.0 | N | 0.789 | 0.422 | 0.3349148499 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs749310329 |
-0.573 | 1.0 | N | 0.789 | 0.422 | 0.3349148499 | gnomAD-4.0.0 | 5.58507E-06 | None | None | None | None | I | None | 1.33783E-05 | 1.6695E-05 | None | 0 | 0 | None | 0 | 0 | 5.09144E-06 | 0 | 1.60364E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8427 | likely_pathogenic | 0.6912 | pathogenic | -0.009 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | I |
| R/C | 0.6213 | likely_pathogenic | 0.4618 | ambiguous | -0.168 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.471826538 | None | None | I |
| R/D | 0.9482 | likely_pathogenic | 0.8901 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| R/E | 0.822 | likely_pathogenic | 0.691 | pathogenic | -0.161 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | I |
| R/F | 0.9147 | likely_pathogenic | 0.827 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| R/G | 0.8028 | likely_pathogenic | 0.6362 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.449987083 | None | None | I |
| R/H | 0.3937 | ambiguous | 0.3018 | benign | -0.619 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.521809896 | None | None | I |
| R/I | 0.7453 | likely_pathogenic | 0.5955 | pathogenic | 0.358 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| R/K | 0.2682 | likely_benign | 0.2099 | benign | -0.106 | Destabilizing | 0.998 | D | 0.636 | neutral | None | None | None | None | I |
| R/L | 0.6761 | likely_pathogenic | 0.5335 | ambiguous | 0.358 | Stabilizing | 1.0 | D | 0.66 | neutral | N | 0.452160596 | None | None | I |
| R/M | 0.8234 | likely_pathogenic | 0.692 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| R/N | 0.9253 | likely_pathogenic | 0.8453 | pathogenic | 0.104 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| R/P | 0.8896 | likely_pathogenic | 0.7748 | pathogenic | 0.254 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.484155584 | None | None | I |
| R/Q | 0.3719 | ambiguous | 0.2708 | benign | -0.002 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| R/S | 0.9138 | likely_pathogenic | 0.8077 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.474189307 | None | None | I |
| R/T | 0.8199 | likely_pathogenic | 0.6661 | pathogenic | -0.022 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| R/V | 0.7839 | likely_pathogenic | 0.6336 | pathogenic | 0.254 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| R/W | 0.6558 | likely_pathogenic | 0.5059 | ambiguous | -0.407 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| R/Y | 0.8358 | likely_pathogenic | 0.7121 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.753 | 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.