Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31238 | 93937;93938;93939 | chr2:178547914;178547913;178547912 | chr2:179412641;179412640;179412639 |
| N2AB | 29597 | 89014;89015;89016 | chr2:178547914;178547913;178547912 | chr2:179412641;179412640;179412639 |
| N2A | 28670 | 86233;86234;86235 | chr2:178547914;178547913;178547912 | chr2:179412641;179412640;179412639 |
| N2B | 22173 | 66742;66743;66744 | chr2:178547914;178547913;178547912 | chr2:179412641;179412640;179412639 |
| Novex-1 | 22298 | 67117;67118;67119 | chr2:178547914;178547913;178547912 | chr2:179412641;179412640;179412639 |
| Novex-2 | 22365 | 67318;67319;67320 | chr2:178547914;178547913;178547912 | chr2:179412641;179412640;179412639 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs779727282  |
-0.769 | 0.928 | N | 0.647 | 0.397 | 0.509228182784 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.61438E-04 | None | 0 | 0 | 0 |
| P/A | rs779727282 |
-0.769 | 0.928 | N | 0.647 | 0.397 | 0.509228182784 | gnomAD-4.0.0 | 1.43681E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31868E-04 | 1.65656E-05 |
| P/L | None | None | 0.978 | N | 0.776 | 0.403 | 0.631849437455 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | N | None | 2.98757E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| P/Q | None | None | 0.978 | N | 0.81 | 0.364 | 0.559006825661 | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52118E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2245 | likely_benign | 0.2646 | benign | -0.812 | Destabilizing | 0.928 | D | 0.647 | neutral | N | 0.520588892 | None | None | N |
| P/C | 0.8203 | likely_pathogenic | 0.8377 | pathogenic | -0.67 | Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
| P/D | 0.8135 | likely_pathogenic | 0.8314 | pathogenic | -0.662 | Destabilizing | 0.983 | D | 0.811 | deleterious | None | None | None | None | N |
| P/E | 0.6814 | likely_pathogenic | 0.7125 | pathogenic | -0.764 | Destabilizing | 0.983 | D | 0.753 | deleterious | None | None | None | None | N |
| P/F | 0.7943 | likely_pathogenic | 0.8284 | pathogenic | -0.917 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| P/G | 0.6525 | likely_pathogenic | 0.7079 | pathogenic | -0.987 | Destabilizing | 0.983 | D | 0.729 | prob.delet. | None | None | None | None | N |
| P/H | 0.5305 | ambiguous | 0.5636 | ambiguous | -0.535 | Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| P/I | 0.6087 | likely_pathogenic | 0.6755 | pathogenic | -0.49 | Destabilizing | 0.992 | D | 0.805 | deleterious | None | None | None | None | N |
| P/K | 0.6324 | likely_pathogenic | 0.6649 | pathogenic | -0.745 | Destabilizing | 0.895 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/L | 0.2608 | likely_benign | 0.3095 | benign | -0.49 | Destabilizing | 0.978 | D | 0.776 | deleterious | N | 0.484287205 | None | None | N |
| P/M | 0.6181 | likely_pathogenic | 0.6694 | pathogenic | -0.396 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| P/N | 0.7162 | likely_pathogenic | 0.7484 | pathogenic | -0.449 | Destabilizing | 0.983 | D | 0.779 | deleterious | None | None | None | None | N |
| P/Q | 0.459 | ambiguous | 0.5053 | ambiguous | -0.718 | Destabilizing | 0.978 | D | 0.81 | deleterious | N | 0.481752309 | None | None | N |
| P/R | 0.4582 | ambiguous | 0.4881 | ambiguous | -0.152 | Destabilizing | 0.085 | N | 0.529 | neutral | N | 0.505331438 | None | None | N |
| P/S | 0.3838 | ambiguous | 0.4316 | ambiguous | -0.819 | Destabilizing | 0.978 | D | 0.743 | deleterious | D | 0.523917199 | None | None | N |
| P/T | 0.3301 | likely_benign | 0.3832 | ambiguous | -0.823 | Destabilizing | 0.978 | D | 0.769 | deleterious | N | 0.51410285 | None | None | N |
| P/V | 0.4656 | ambiguous | 0.5313 | ambiguous | -0.562 | Destabilizing | 0.992 | D | 0.783 | deleterious | None | None | None | None | N |
| P/W | 0.9047 | likely_pathogenic | 0.9167 | pathogenic | -0.998 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| P/Y | 0.7929 | likely_pathogenic | 0.8141 | pathogenic | -0.72 | Destabilizing | 0.999 | D | 0.795 | 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.