Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3131 | 9616;9617;9618 | chr2:178767839;178767838;178767837 | chr2:179632566;179632565;179632564 |
| N2AB | 3131 | 9616;9617;9618 | chr2:178767839;178767838;178767837 | chr2:179632566;179632565;179632564 |
| N2A | 3131 | 9616;9617;9618 | chr2:178767839;178767838;178767837 | chr2:179632566;179632565;179632564 |
| N2B | 3085 | 9478;9479;9480 | chr2:178767839;178767838;178767837 | chr2:179632566;179632565;179632564 |
| Novex-1 | 3085 | 9478;9479;9480 | chr2:178767839;178767838;178767837 | chr2:179632566;179632565;179632564 |
| Novex-2 | 3085 | 9478;9479;9480 | chr2:178767839;178767838;178767837 | chr2:179632566;179632565;179632564 |
| Novex-3 | 3131 | 9616;9617;9618 | chr2:178767839;178767838;178767837 | chr2:179632566;179632565;179632564 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 1.0 | D | 0.567 | 0.578 | 0.617871938043 | 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 |
| A/V | None | None | 1.0 | D | 0.623 | 0.55 | 0.652441387294 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8565 | likely_pathogenic | 0.8548 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| A/D | 0.995 | likely_pathogenic | 0.9931 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/E | 0.9921 | likely_pathogenic | 0.9899 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.801360467 | None | None | N |
| A/F | 0.9612 | likely_pathogenic | 0.9652 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/G | 0.6202 | likely_pathogenic | 0.629 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.567 | neutral | D | 0.699137841 | None | None | N |
| A/H | 0.9932 | likely_pathogenic | 0.9917 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/I | 0.8633 | likely_pathogenic | 0.8835 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/K | 0.9975 | likely_pathogenic | 0.9966 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/L | 0.7784 | likely_pathogenic | 0.7868 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/M | 0.8781 | likely_pathogenic | 0.903 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/N | 0.9884 | likely_pathogenic | 0.9865 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/P | 0.9921 | likely_pathogenic | 0.9875 | pathogenic | -0.006 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.675025085 | None | None | N |
| A/Q | 0.9861 | likely_pathogenic | 0.9835 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/R | 0.9897 | likely_pathogenic | 0.9858 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/S | 0.435 | ambiguous | 0.4277 | ambiguous | -1.412 | Destabilizing | 1.0 | D | 0.581 | neutral | D | 0.707422803 | None | None | N |
| A/T | 0.6356 | likely_pathogenic | 0.6624 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.61371298 | None | None | N |
| A/V | 0.5767 | likely_pathogenic | 0.6132 | pathogenic | -0.006 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.528572324 | None | None | N |
| A/W | 0.9968 | likely_pathogenic | 0.9962 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/Y | 0.9872 | likely_pathogenic | 0.9864 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.861 | 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.