Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22084 | 66475;66476;66477 | chr2:178582119;178582118;178582117 | chr2:179446846;179446845;179446844 |
| N2AB | 20443 | 61552;61553;61554 | chr2:178582119;178582118;178582117 | chr2:179446846;179446845;179446844 |
| N2A | 19516 | 58771;58772;58773 | chr2:178582119;178582118;178582117 | chr2:179446846;179446845;179446844 |
| N2B | 13019 | 39280;39281;39282 | chr2:178582119;178582118;178582117 | chr2:179446846;179446845;179446844 |
| Novex-1 | 13144 | 39655;39656;39657 | chr2:178582119;178582118;178582117 | chr2:179446846;179446845;179446844 |
| Novex-2 | 13211 | 39856;39857;39858 | chr2:178582119;178582118;178582117 | chr2:179446846;179446845;179446844 |
| 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/S | rs776226354  |
-0.345 | 0.961 | N | 0.434 | 0.301 | 0.316198179892 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/S | rs776226354 |
-0.345 | 0.961 | N | 0.434 | 0.301 | 0.316198179892 | gnomAD-4.0.0 | 1.36928E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79929E-06 | 0 | 0 |
| G/V | None | None | 0.994 | D | 0.723 | 0.41 | 0.595389996124 | gnomAD-4.0.0 | 1.59379E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86004E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7154 | likely_pathogenic | 0.6384 | pathogenic | -0.2 | Destabilizing | 0.961 | D | 0.451 | neutral | N | 0.495948409 | None | None | I |
| G/C | 0.818 | likely_pathogenic | 0.6813 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.536084166 | None | None | I |
| G/D | 0.8361 | likely_pathogenic | 0.7849 | pathogenic | -0.449 | Destabilizing | 0.994 | D | 0.524 | neutral | N | 0.512193013 | None | None | I |
| G/E | 0.8791 | likely_pathogenic | 0.8427 | pathogenic | -0.603 | Destabilizing | 0.97 | D | 0.629 | neutral | None | None | None | None | I |
| G/F | 0.9639 | likely_pathogenic | 0.9384 | pathogenic | -0.976 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | I |
| G/H | 0.8556 | likely_pathogenic | 0.7938 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| G/I | 0.9593 | likely_pathogenic | 0.936 | pathogenic | -0.465 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | I |
| G/K | 0.8016 | likely_pathogenic | 0.7545 | pathogenic | -0.494 | Destabilizing | 0.304 | N | 0.337 | neutral | None | None | None | None | I |
| G/L | 0.9325 | likely_pathogenic | 0.8999 | pathogenic | -0.465 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/M | 0.9469 | likely_pathogenic | 0.9184 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/N | 0.7517 | likely_pathogenic | 0.7142 | pathogenic | -0.238 | Destabilizing | 0.996 | D | 0.493 | neutral | None | None | None | None | I |
| G/P | 0.9967 | likely_pathogenic | 0.9953 | pathogenic | -0.353 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/Q | 0.7887 | likely_pathogenic | 0.7386 | pathogenic | -0.49 | Destabilizing | 0.991 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/R | 0.7528 | likely_pathogenic | 0.6749 | pathogenic | -0.125 | Destabilizing | 0.071 | N | 0.359 | neutral | N | 0.48529012 | None | None | I |
| G/S | 0.5142 | ambiguous | 0.4506 | ambiguous | -0.388 | Destabilizing | 0.961 | D | 0.434 | neutral | N | 0.490895526 | None | None | I |
| G/T | 0.8625 | likely_pathogenic | 0.822 | pathogenic | -0.476 | Destabilizing | 0.996 | D | 0.648 | neutral | None | None | None | None | I |
| G/V | 0.9352 | likely_pathogenic | 0.9019 | pathogenic | -0.353 | Destabilizing | 0.994 | D | 0.723 | prob.delet. | D | 0.546426513 | None | None | I |
| G/W | 0.9635 | likely_pathogenic | 0.9308 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/Y | 0.934 | likely_pathogenic | 0.8817 | pathogenic | -0.759 | Destabilizing | 0.999 | D | 0.732 | 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.