Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14361 | 43306;43307;43308 | chr2:178633192;178633191;178633190 | chr2:179497919;179497918;179497917 |
| N2AB | 12720 | 38383;38384;38385 | chr2:178633192;178633191;178633190 | chr2:179497919;179497918;179497917 |
| N2A | 11793 | 35602;35603;35604 | chr2:178633192;178633191;178633190 | chr2:179497919;179497918;179497917 |
| N2B | 5296 | 16111;16112;16113 | chr2:178633192;178633191;178633190 | chr2:179497919;179497918;179497917 |
| Novex-1 | 5421 | 16486;16487;16488 | chr2:178633192;178633191;178633190 | chr2:179497919;179497918;179497917 |
| Novex-2 | 5488 | 16687;16688;16689 | chr2:178633192;178633191;178633190 | chr2:179497919;179497918;179497917 |
| 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/C | None | None | 1.0 | N | 0.743 | 0.451 | 0.300110245524 | gnomAD-4.0.0 | 6.8571E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6613E-05 |
| S/Y | None | None | 0.999 | D | 0.798 | 0.481 | 0.523806315272 | gnomAD-4.0.0 | 1.37142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80224E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1697 | likely_benign | 0.1596 | benign | -0.17 | Destabilizing | 0.994 | D | 0.463 | neutral | N | 0.513416099 | None | None | N |
| S/C | 0.2732 | likely_benign | 0.2759 | benign | -0.159 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.494021067 | None | None | N |
| S/D | 0.576 | likely_pathogenic | 0.5144 | ambiguous | 0.013 | Stabilizing | 0.998 | D | 0.601 | neutral | None | None | None | None | N |
| S/E | 0.7888 | likely_pathogenic | 0.7786 | pathogenic | -0.098 | Destabilizing | 0.998 | D | 0.593 | neutral | None | None | None | None | N |
| S/F | 0.3858 | ambiguous | 0.374 | ambiguous | -0.862 | Destabilizing | 0.999 | D | 0.781 | deleterious | D | 0.596596037 | None | None | N |
| S/G | 0.1622 | likely_benign | 0.1437 | benign | -0.241 | Destabilizing | 0.998 | D | 0.423 | neutral | None | None | None | None | N |
| S/H | 0.5418 | ambiguous | 0.5308 | ambiguous | -0.704 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| S/I | 0.4652 | ambiguous | 0.4617 | ambiguous | -0.117 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| S/K | 0.8841 | likely_pathogenic | 0.8745 | pathogenic | -0.38 | Destabilizing | 0.998 | D | 0.596 | neutral | None | None | None | None | N |
| S/L | 0.1875 | likely_benign | 0.1918 | benign | -0.117 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| S/M | 0.4267 | ambiguous | 0.4252 | ambiguous | 0.083 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| S/N | 0.3094 | likely_benign | 0.2673 | benign | -0.053 | Destabilizing | 0.998 | D | 0.603 | neutral | None | None | None | None | N |
| S/P | 0.8488 | likely_pathogenic | 0.8471 | pathogenic | -0.108 | Destabilizing | 0.999 | D | 0.603 | neutral | D | 0.593860501 | None | None | N |
| S/Q | 0.7958 | likely_pathogenic | 0.7838 | pathogenic | -0.324 | Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | N |
| S/R | 0.86 | likely_pathogenic | 0.843 | pathogenic | -0.138 | Destabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| S/T | 0.1446 | likely_benign | 0.1393 | benign | -0.16 | Destabilizing | 0.997 | D | 0.453 | neutral | N | 0.428909299 | None | None | N |
| S/V | 0.4691 | ambiguous | 0.467 | ambiguous | -0.108 | Destabilizing | 0.999 | D | 0.702 | prob.delet. | None | None | None | None | N |
| S/W | 0.6794 | likely_pathogenic | 0.6814 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| S/Y | 0.3978 | ambiguous | 0.3866 | ambiguous | -0.618 | Destabilizing | 0.999 | D | 0.798 | deleterious | D | 0.596435872 | 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.