Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30275 | 91048;91049;91050 | chr2:178552077;178552076;178552075 | chr2:179416804;179416803;179416802 |
| N2AB | 28634 | 86125;86126;86127 | chr2:178552077;178552076;178552075 | chr2:179416804;179416803;179416802 |
| N2A | 27707 | 83344;83345;83346 | chr2:178552077;178552076;178552075 | chr2:179416804;179416803;179416802 |
| N2B | 21210 | 63853;63854;63855 | chr2:178552077;178552076;178552075 | chr2:179416804;179416803;179416802 |
| Novex-1 | 21335 | 64228;64229;64230 | chr2:178552077;178552076;178552075 | chr2:179416804;179416803;179416802 |
| Novex-2 | 21402 | 64429;64430;64431 | chr2:178552077;178552076;178552075 | chr2:179416804;179416803;179416802 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs563222480  |
None | 0.999 | N | 0.589 | 0.34 | 0.688990105682 | 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 |
| V/A | rs563222480 |
None | 0.999 | N | 0.589 | 0.34 | 0.688990105682 | gnomAD-4.0.0 | 2.56239E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78625E-06 | 0 | 0 |
| V/E | rs563222480 |
-1.743 | 1.0 | N | 0.801 | 0.54 | 0.82268970376 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/E | rs563222480 |
-1.743 | 1.0 | N | 0.801 | 0.54 | 0.82268970376 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| V/E | rs563222480 |
-1.743 | 1.0 | N | 0.801 | 0.54 | 0.82268970376 | gnomAD-4.0.0 | 8.967E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.38313E-05 | 0 |
| V/M | None | None | 1.0 | N | 0.734 | 0.369 | 0.705468647244 | gnomAD-4.0.0 | 6.84244E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99504E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4964 | ambiguous | 0.3874 | ambiguous | -1.621 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.519404309 | None | None | N |
| V/C | 0.9145 | likely_pathogenic | 0.8845 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| V/D | 0.982 | likely_pathogenic | 0.9651 | pathogenic | -1.838 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/E | 0.9482 | likely_pathogenic | 0.9093 | pathogenic | -1.713 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.509463399 | None | None | N |
| V/F | 0.6928 | likely_pathogenic | 0.5458 | ambiguous | -1.097 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| V/G | 0.8068 | likely_pathogenic | 0.7266 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.520201048 | None | None | N |
| V/H | 0.9821 | likely_pathogenic | 0.965 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| V/I | 0.1047 | likely_benign | 0.1038 | benign | -0.455 | Destabilizing | 0.998 | D | 0.509 | neutral | None | None | None | None | N |
| V/K | 0.9816 | likely_pathogenic | 0.9642 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/L | 0.576 | likely_pathogenic | 0.4753 | ambiguous | -0.455 | Destabilizing | 0.997 | D | 0.569 | neutral | N | 0.477178455 | None | None | N |
| V/M | 0.5715 | likely_pathogenic | 0.4654 | ambiguous | -0.353 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.507123222 | None | None | N |
| V/N | 0.9296 | likely_pathogenic | 0.888 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/P | 0.9779 | likely_pathogenic | 0.967 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/Q | 0.9481 | likely_pathogenic | 0.9093 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/R | 0.9686 | likely_pathogenic | 0.943 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/S | 0.7704 | likely_pathogenic | 0.683 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| V/T | 0.6588 | likely_pathogenic | 0.5757 | pathogenic | -1.74 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| V/W | 0.9929 | likely_pathogenic | 0.9858 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/Y | 0.9553 | likely_pathogenic | 0.9132 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.829 | 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.