Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30171 | 90736;90737;90738 | chr2:178552389;178552388;178552387 | chr2:179417116;179417115;179417114 |
| N2AB | 28530 | 85813;85814;85815 | chr2:178552389;178552388;178552387 | chr2:179417116;179417115;179417114 |
| N2A | 27603 | 83032;83033;83034 | chr2:178552389;178552388;178552387 | chr2:179417116;179417115;179417114 |
| N2B | 21106 | 63541;63542;63543 | chr2:178552389;178552388;178552387 | chr2:179417116;179417115;179417114 |
| Novex-1 | 21231 | 63916;63917;63918 | chr2:178552389;178552388;178552387 | chr2:179417116;179417115;179417114 |
| Novex-2 | 21298 | 64117;64118;64119 | chr2:178552389;178552388;178552387 | chr2:179417116;179417115;179417114 |
| 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/L | rs2154151253  |
None | 0.984 | D | 0.677 | 0.455 | 0.721402755317 | gnomAD-4.0.0 | 3.30137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.96937E-06 | 1.51713E-05 | 0 |
| P/T | None | None | 0.999 | D | 0.717 | 0.442 | 0.610711448424 | gnomAD-4.0.0 | 6.95148E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.1041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0991 | likely_benign | 0.0929 | benign | -0.544 | Destabilizing | 0.992 | D | 0.65 | neutral | D | 0.525997499 | None | None | N |
| P/C | 0.5868 | likely_pathogenic | 0.549 | ambiguous | -0.663 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| P/D | 0.6653 | likely_pathogenic | 0.5382 | ambiguous | -0.33 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/E | 0.4656 | ambiguous | 0.3509 | ambiguous | -0.413 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/F | 0.513 | ambiguous | 0.4548 | ambiguous | -0.613 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/G | 0.481 | ambiguous | 0.4156 | ambiguous | -0.701 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| P/H | 0.2631 | likely_benign | 0.2183 | benign | -0.147 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| P/I | 0.2425 | likely_benign | 0.2235 | benign | -0.264 | Destabilizing | 0.919 | D | 0.501 | neutral | None | None | None | None | N |
| P/K | 0.4781 | ambiguous | 0.3704 | ambiguous | -0.536 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| P/L | 0.1105 | likely_benign | 0.1073 | benign | -0.264 | Destabilizing | 0.984 | D | 0.677 | prob.neutral | D | 0.526517574 | None | None | N |
| P/M | 0.3127 | likely_benign | 0.2951 | benign | -0.454 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| P/N | 0.4345 | ambiguous | 0.3754 | ambiguous | -0.334 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| P/Q | 0.2175 | likely_benign | 0.1857 | benign | -0.531 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.486947004 | None | None | N |
| P/R | 0.3387 | likely_benign | 0.2535 | benign | -0.024 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.497253353 | None | None | N |
| P/S | 0.1946 | likely_benign | 0.168 | benign | -0.707 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.529595164 | None | None | N |
| P/T | 0.1493 | likely_benign | 0.1307 | benign | -0.687 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | D | 0.534598339 | None | None | N |
| P/V | 0.1677 | likely_benign | 0.161 | benign | -0.323 | Destabilizing | 0.988 | D | 0.629 | neutral | None | None | None | None | N |
| P/W | 0.7629 | likely_pathogenic | 0.7065 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/Y | 0.4998 | ambiguous | 0.4295 | ambiguous | -0.423 | Destabilizing | 1.0 | D | 0.743 | 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.