Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3227 | 9904;9905;9906 | chr2:178766405;178766404;178766403 | chr2:179631132;179631131;179631130 |
| N2AB | 3227 | 9904;9905;9906 | chr2:178766405;178766404;178766403 | chr2:179631132;179631131;179631130 |
| N2A | 3227 | 9904;9905;9906 | chr2:178766405;178766404;178766403 | chr2:179631132;179631131;179631130 |
| N2B | 3181 | 9766;9767;9768 | chr2:178766405;178766404;178766403 | chr2:179631132;179631131;179631130 |
| Novex-1 | 3181 | 9766;9767;9768 | chr2:178766405;178766404;178766403 | chr2:179631132;179631131;179631130 |
| Novex-2 | 3181 | 9766;9767;9768 | chr2:178766405;178766404;178766403 | chr2:179631132;179631131;179631130 |
| Novex-3 | 3227 | 9904;9905;9906 | chr2:178766405;178766404;178766403 | chr2:179631132;179631131;179631130 |
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 | rs886042755  |
0.087 | 1.0 | N | 0.811 | 0.397 | 0.209622950755 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.75E-06 | 1.38658E-04 |
| S/C | rs886042755 |
0.087 | 1.0 | N | 0.811 | 0.397 | 0.209622950755 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| S/C | rs886042755 |
0.087 | 1.0 | N | 0.811 | 0.397 | 0.209622950755 | gnomAD-4.0.0 | 1.48725E-05 | None | None | None | None | N | None | 1.33476E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.94953E-05 | 0 | 0 |
| S/N | None | None | 0.999 | N | 0.575 | 0.257 | 0.144782658237 | gnomAD-4.0.0 | 1.59059E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-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 | 0.2001 | likely_benign | 0.1743 | benign | -0.795 | Destabilizing | 0.998 | D | 0.519 | neutral | None | None | None | None | N |
| S/C | 0.3785 | ambiguous | 0.2685 | benign | -0.356 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.322708565 | None | None | N |
| S/D | 0.9245 | likely_pathogenic | 0.9022 | pathogenic | 0.466 | Stabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| S/E | 0.9456 | likely_pathogenic | 0.9311 | pathogenic | 0.513 | Stabilizing | 0.999 | D | 0.57 | neutral | None | None | None | None | N |
| S/F | 0.8365 | likely_pathogenic | 0.7843 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| S/G | 0.4513 | ambiguous | 0.3789 | ambiguous | -1.075 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.418124469 | None | None | N |
| S/H | 0.8455 | likely_pathogenic | 0.8073 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| S/I | 0.8327 | likely_pathogenic | 0.777 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.415689036 | None | None | N |
| S/K | 0.9861 | likely_pathogenic | 0.9821 | pathogenic | -0.117 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| S/L | 0.6335 | likely_pathogenic | 0.5594 | ambiguous | -0.14 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| S/M | 0.744 | likely_pathogenic | 0.6639 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| S/N | 0.6876 | likely_pathogenic | 0.6275 | pathogenic | -0.19 | Destabilizing | 0.999 | D | 0.575 | neutral | N | 0.418124469 | None | None | N |
| S/P | 0.9951 | likely_pathogenic | 0.9913 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| S/Q | 0.9083 | likely_pathogenic | 0.8871 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/R | 0.9764 | likely_pathogenic | 0.9687 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.416218084 | None | None | N |
| S/T | 0.2802 | likely_benign | 0.2291 | benign | -0.276 | Destabilizing | 0.999 | D | 0.567 | neutral | N | 0.310428718 | None | None | N |
| S/V | 0.761 | likely_pathogenic | 0.688 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| S/W | 0.9074 | likely_pathogenic | 0.8655 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| S/Y | 0.753 | likely_pathogenic | 0.6777 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | 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.