Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33320 | 100183;100184;100185 | chr2:178537151;178537150;178537149 | chr2:179401878;179401877;179401876 |
| N2AB | 31679 | 95260;95261;95262 | chr2:178537151;178537150;178537149 | chr2:179401878;179401877;179401876 |
| N2A | 30752 | 92479;92480;92481 | chr2:178537151;178537150;178537149 | chr2:179401878;179401877;179401876 |
| N2B | 24255 | 72988;72989;72990 | chr2:178537151;178537150;178537149 | chr2:179401878;179401877;179401876 |
| Novex-1 | 24380 | 73363;73364;73365 | chr2:178537151;178537150;178537149 | chr2:179401878;179401877;179401876 |
| Novex-2 | 24447 | 73564;73565;73566 | chr2:178537151;178537150;178537149 | chr2:179401878;179401877;179401876 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs776541491  |
-0.107 | 1.0 | N | 0.657 | 0.564 | 0.390687800842 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/A | rs776541491 |
-0.107 | 1.0 | N | 0.657 | 0.564 | 0.390687800842 | gnomAD-4.0.0 | 3.42149E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69856E-06 | 2.31943E-05 | 0 |
| G/R | None | None | 1.0 | D | 0.811 | 0.681 | 0.666034180468 | gnomAD-4.0.0 | 6.84294E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99518E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7737 | likely_pathogenic | 0.7439 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.515698505 | None | None | I |
| G/C | 0.8402 | likely_pathogenic | 0.8288 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.540857106 | None | None | I |
| G/D | 0.9095 | likely_pathogenic | 0.8203 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.516965952 | None | None | I |
| G/E | 0.9402 | likely_pathogenic | 0.894 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/F | 0.9718 | likely_pathogenic | 0.9706 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.9598 | likely_pathogenic | 0.9369 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/I | 0.9706 | likely_pathogenic | 0.9645 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/K | 0.9605 | likely_pathogenic | 0.9257 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/L | 0.9598 | likely_pathogenic | 0.9588 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/M | 0.9732 | likely_pathogenic | 0.9707 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/N | 0.8782 | likely_pathogenic | 0.8318 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9972 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Q | 0.9341 | likely_pathogenic | 0.9065 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/R | 0.9211 | likely_pathogenic | 0.8719 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.524954896 | None | None | I |
| G/S | 0.6219 | likely_pathogenic | 0.5495 | ambiguous | -0.39 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.514431057 | None | None | I |
| G/T | 0.9117 | likely_pathogenic | 0.8969 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/V | 0.9516 | likely_pathogenic | 0.9418 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.539843147 | None | None | I |
| G/W | 0.9729 | likely_pathogenic | 0.9656 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/Y | 0.9656 | likely_pathogenic | 0.9542 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.789 | 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.