Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1028 | 3307;3308;3309 | chr2:178782824;178782823;178782822 | chr2:179647551;179647550;179647549 |
| N2AB | 1028 | 3307;3308;3309 | chr2:178782824;178782823;178782822 | chr2:179647551;179647550;179647549 |
| N2A | 1028 | 3307;3308;3309 | chr2:178782824;178782823;178782822 | chr2:179647551;179647550;179647549 |
| N2B | 982 | 3169;3170;3171 | chr2:178782824;178782823;178782822 | chr2:179647551;179647550;179647549 |
| Novex-1 | 982 | 3169;3170;3171 | chr2:178782824;178782823;178782822 | chr2:179647551;179647550;179647549 |
| Novex-2 | 982 | 3169;3170;3171 | chr2:178782824;178782823;178782822 | chr2:179647551;179647550;179647549 |
| Novex-3 | 1028 | 3307;3308;3309 | chr2:178782824;178782823;178782822 | chr2:179647551;179647550;179647549 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs767205822  |
None | 0.999 | N | 0.772 | 0.481 | 0.819743219675 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/F | rs767205822 |
None | 0.999 | N | 0.772 | 0.481 | 0.819743219675 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46977E-05 | 0 | 0 |
| C/G | None | None | 0.98 | N | 0.798 | 0.639 | 0.823568263861 | gnomAD-4.0.0 | 2.05357E-06 | None | None | None | None | N | None | 0 | 4.47287E-05 | None | 0 | 0 | None | 0 | 0 | 8.99418E-07 | 0 | 0 |
| C/Y | rs767205822 |
-1.377 | 0.999 | N | 0.779 | 0.467 | 0.778271357333 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/Y | rs767205822 |
-1.377 | 0.999 | N | 0.779 | 0.467 | 0.778271357333 | gnomAD-4.0.0 | 1.3691E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99421E-07 | 1.16004E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8626 | likely_pathogenic | 0.8609 | pathogenic | -1.666 | Destabilizing | 0.931 | D | 0.552 | neutral | None | None | None | None | N |
| C/D | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.709 | Destabilizing | 0.996 | D | 0.813 | deleterious | None | None | None | None | N |
| C/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.545 | Destabilizing | 0.996 | D | 0.822 | deleterious | None | None | None | None | N |
| C/F | 0.9805 | likely_pathogenic | 0.98 | pathogenic | -1.145 | Destabilizing | 0.999 | D | 0.772 | deleterious | N | 0.499199449 | None | None | N |
| C/G | 0.7887 | likely_pathogenic | 0.7616 | pathogenic | -2.005 | Highly Destabilizing | 0.98 | D | 0.798 | deleterious | N | 0.48891841 | None | None | N |
| C/H | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| C/I | 0.9925 | likely_pathogenic | 0.9919 | pathogenic | -0.78 | Destabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.826 | Destabilizing | 0.996 | D | 0.811 | deleterious | None | None | None | None | N |
| C/L | 0.9775 | likely_pathogenic | 0.9745 | pathogenic | -0.78 | Destabilizing | 0.993 | D | 0.665 | neutral | None | None | None | None | N |
| C/M | 0.9919 | likely_pathogenic | 0.9912 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| C/N | 0.9957 | likely_pathogenic | 0.9956 | pathogenic | -1.1 | Destabilizing | 0.996 | D | 0.823 | deleterious | None | None | None | None | N |
| C/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.049 | Destabilizing | 0.998 | D | 0.839 | deleterious | None | None | None | None | N |
| C/Q | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -0.851 | Destabilizing | 0.998 | D | 0.838 | deleterious | None | None | None | None | N |
| C/R | 0.9971 | likely_pathogenic | 0.9969 | pathogenic | -1.023 | Destabilizing | 0.997 | D | 0.837 | deleterious | N | 0.504613913 | None | None | N |
| C/S | 0.9054 | likely_pathogenic | 0.9036 | pathogenic | -1.548 | Destabilizing | 0.659 | D | 0.464 | neutral | N | 0.46783389 | None | None | N |
| C/T | 0.9621 | likely_pathogenic | 0.9582 | pathogenic | -1.185 | Destabilizing | 0.971 | D | 0.696 | prob.neutral | None | None | None | None | N |
| C/V | 0.9679 | likely_pathogenic | 0.9664 | pathogenic | -1.049 | Destabilizing | 0.993 | D | 0.745 | deleterious | None | None | None | None | N |
| C/W | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.598242 | None | None | N |
| C/Y | 0.9956 | likely_pathogenic | 0.9953 | pathogenic | -1.169 | Destabilizing | 0.999 | D | 0.779 | deleterious | N | 0.506009482 | 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.