Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32217 | 96874;96875;96876 | chr2:178543324;178543323;178543322 | chr2:179408051;179408050;179408049 |
| N2AB | 30576 | 91951;91952;91953 | chr2:178543324;178543323;178543322 | chr2:179408051;179408050;179408049 |
| N2A | 29649 | 89170;89171;89172 | chr2:178543324;178543323;178543322 | chr2:179408051;179408050;179408049 |
| N2B | 23152 | 69679;69680;69681 | chr2:178543324;178543323;178543322 | chr2:179408051;179408050;179408049 |
| Novex-1 | 23277 | 70054;70055;70056 | chr2:178543324;178543323;178543322 | chr2:179408051;179408050;179408049 |
| Novex-2 | 23344 | 70255;70256;70257 | chr2:178543324;178543323;178543322 | chr2:179408051;179408050;179408049 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs759428862  |
-1.219 | 1.0 | N | 0.769 | 0.432 | 0.61019172268 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/F | rs759428862 |
-1.219 | 1.0 | N | 0.769 | 0.432 | 0.61019172268 | gnomAD-4.0.0 | 7.95555E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.76464E-05 | 0 | 8.57412E-06 | 0 | 0 |
| S/P | None | None | 1.0 | N | 0.785 | 0.48 | 0.404315859256 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/T | None | None | 0.999 | N | 0.447 | 0.186 | 0.228597637076 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| S/Y | rs759428862 |
None | 1.0 | N | 0.77 | 0.48 | 0.628695536755 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/Y | rs759428862 |
None | 1.0 | N | 0.77 | 0.48 | 0.628695536755 | gnomAD-4.0.0 | 6.5684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93648E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1256 | likely_benign | 0.1142 | benign | -0.755 | Destabilizing | 0.997 | D | 0.417 | neutral | N | 0.498050388 | None | None | N |
| S/C | 0.1775 | likely_benign | 0.181 | benign | -0.705 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.483084393 | None | None | N |
| S/D | 0.3658 | ambiguous | 0.3977 | ambiguous | -0.893 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| S/E | 0.549 | ambiguous | 0.575 | pathogenic | -0.912 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| S/F | 0.3501 | ambiguous | 0.3282 | benign | -1.136 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.482312932 | None | None | N |
| S/G | 0.1152 | likely_benign | 0.1106 | benign | -0.952 | Destabilizing | 0.999 | D | 0.45 | neutral | None | None | None | None | N |
| S/H | 0.3628 | ambiguous | 0.3811 | ambiguous | -1.468 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| S/I | 0.4691 | ambiguous | 0.4413 | ambiguous | -0.337 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| S/K | 0.6785 | likely_pathogenic | 0.727 | pathogenic | -0.749 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| S/L | 0.1997 | likely_benign | 0.1828 | benign | -0.337 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| S/M | 0.2626 | likely_benign | 0.2488 | benign | 0.057 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/N | 0.1289 | likely_benign | 0.1331 | benign | -0.786 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| S/P | 0.9127 | likely_pathogenic | 0.9144 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.494187208 | None | None | N |
| S/Q | 0.5058 | ambiguous | 0.5321 | ambiguous | -1.084 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| S/R | 0.651 | likely_pathogenic | 0.7072 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| S/T | 0.0934 | likely_benign | 0.091 | benign | -0.771 | Destabilizing | 0.999 | D | 0.447 | neutral | N | 0.419255957 | None | None | N |
| S/V | 0.4087 | ambiguous | 0.382 | ambiguous | -0.446 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| S/W | 0.462 | ambiguous | 0.4912 | ambiguous | -1.097 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| S/Y | 0.2199 | likely_benign | 0.2271 | benign | -0.809 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.51879102 | 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.