Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18870 | 56833;56834;56835 | chr2:178599185;178599184;178599183 | chr2:179463912;179463911;179463910 |
| N2AB | 17229 | 51910;51911;51912 | chr2:178599185;178599184;178599183 | chr2:179463912;179463911;179463910 |
| N2A | 16302 | 49129;49130;49131 | chr2:178599185;178599184;178599183 | chr2:179463912;179463911;179463910 |
| N2B | 9805 | 29638;29639;29640 | chr2:178599185;178599184;178599183 | chr2:179463912;179463911;179463910 |
| Novex-1 | 9930 | 30013;30014;30015 | chr2:178599185;178599184;178599183 | chr2:179463912;179463911;179463910 |
| Novex-2 | 9997 | 30214;30215;30216 | chr2:178599185;178599184;178599183 | chr2:179463912;179463911;179463910 |
| 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/H | rs755909878  |
-1.529 | 1.0 | N | 0.824 | 0.494 | 0.627496920012 | gnomAD-2.1.1 | 1.74E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.40154E-04 | None | 0 | 0 | 2.58799E-04 |
| P/H | rs755909878 |
-1.529 | 1.0 | N | 0.824 | 0.494 | 0.627496920012 | gnomAD-4.0.0 | 5.70386E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.13748E-05 | 0 |
| P/L | rs755909878 |
-0.753 | 1.0 | N | 0.829 | 0.488 | 0.731689507483 | gnomAD-2.1.1 | 5.8E-06 | None | None | None | None | N | None | 0 | 5.12E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs755909878 |
-0.753 | 1.0 | N | 0.829 | 0.488 | 0.731689507483 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| P/L | rs755909878 |
-0.753 | 1.0 | N | 0.829 | 0.488 | 0.731689507483 | gnomAD-4.0.0 | 2.94974E-06 | None | None | None | None | N | None | 0 | 2.36686E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.25182E-05 |
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 | 0.1219 | likely_benign | 0.1044 | benign | -1.594 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.475595066 | None | None | N |
| P/C | 0.6573 | likely_pathogenic | 0.6134 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/D | 0.9302 | likely_pathogenic | 0.9093 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/E | 0.8277 | likely_pathogenic | 0.7916 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/F | 0.6846 | likely_pathogenic | 0.6554 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/G | 0.4582 | ambiguous | 0.3862 | ambiguous | -1.868 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/H | 0.5286 | ambiguous | 0.4585 | ambiguous | -1.454 | Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.514338471 | None | None | N |
| P/I | 0.7352 | likely_pathogenic | 0.7331 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/K | 0.8373 | likely_pathogenic | 0.7819 | pathogenic | -1.449 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/L | 0.5524 | ambiguous | 0.5145 | ambiguous | -0.938 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.49395281 | None | None | N |
| P/M | 0.6943 | likely_pathogenic | 0.6638 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/N | 0.8026 | likely_pathogenic | 0.7668 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/Q | 0.6145 | likely_pathogenic | 0.5527 | ambiguous | -1.377 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/R | 0.7247 | likely_pathogenic | 0.64 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.524680818 | None | None | N |
| P/S | 0.2966 | likely_benign | 0.2525 | benign | -1.505 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.483103484 | None | None | N |
| P/T | 0.417 | ambiguous | 0.3782 | ambiguous | -1.456 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.513578002 | None | None | N |
| P/V | 0.5468 | ambiguous | 0.5417 | ambiguous | -1.124 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/W | 0.8396 | likely_pathogenic | 0.8265 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/Y | 0.661 | likely_pathogenic | 0.6161 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.875 | 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.