Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32666 | 98221;98222;98223 | chr2:178540170;178540169;178540168 | chr2:179404897;179404896;179404895 |
| N2AB | 31025 | 93298;93299;93300 | chr2:178540170;178540169;178540168 | chr2:179404897;179404896;179404895 |
| N2A | 30098 | 90517;90518;90519 | chr2:178540170;178540169;178540168 | chr2:179404897;179404896;179404895 |
| N2B | 23601 | 71026;71027;71028 | chr2:178540170;178540169;178540168 | chr2:179404897;179404896;179404895 |
| Novex-1 | 23726 | 71401;71402;71403 | chr2:178540170;178540169;178540168 | chr2:179404897;179404896;179404895 |
| Novex-2 | 23793 | 71602;71603;71604 | chr2:178540170;178540169;178540168 | chr2:179404897;179404896;179404895 |
| 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 | rs1031941089  |
-0.649 | 1.0 | N | 0.742 | 0.415 | 0.624694708293 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.45995E-04 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1031941089 |
-0.649 | 1.0 | N | 0.742 | 0.415 | 0.624694708293 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1031941089 |
-0.649 | 1.0 | N | 0.742 | 0.415 | 0.624694708293 | gnomAD-4.0.0 | 2.56208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.84801E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1031941089 |
None | 1.0 | N | 0.749 | 0.426 | 0.426202426774 | gnomAD-4.0.0 | 1.5912E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.732 | 0.353 | 0.389750110748 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 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 | 0.2674 | likely_benign | 0.3125 | benign | -0.982 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.443154324 | None | None | N |
| P/C | 0.8501 | likely_pathogenic | 0.8631 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| P/D | 0.8455 | likely_pathogenic | 0.8723 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| P/E | 0.6259 | likely_pathogenic | 0.6768 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| P/F | 0.8676 | likely_pathogenic | 0.8935 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| P/G | 0.7174 | likely_pathogenic | 0.7408 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| P/H | 0.5682 | likely_pathogenic | 0.6233 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.457662416 | None | None | N |
| P/I | 0.6289 | likely_pathogenic | 0.6751 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/K | 0.708 | likely_pathogenic | 0.7676 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| P/L | 0.3023 | likely_benign | 0.3503 | ambiguous | -0.436 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.419008028 | None | None | N |
| P/M | 0.6437 | likely_pathogenic | 0.6883 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| P/N | 0.7599 | likely_pathogenic | 0.7897 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| P/Q | 0.4219 | ambiguous | 0.4732 | ambiguous | -0.787 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/R | 0.579 | likely_pathogenic | 0.648 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.397515248 | None | None | N |
| P/S | 0.4382 | ambiguous | 0.4857 | ambiguous | -1.126 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.430763817 | None | None | N |
| P/T | 0.3432 | ambiguous | 0.3962 | ambiguous | -1.041 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.396765886 | None | None | N |
| P/V | 0.4821 | ambiguous | 0.5313 | ambiguous | -0.582 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| P/W | 0.9287 | likely_pathogenic | 0.9432 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| P/Y | 0.8341 | likely_pathogenic | 0.8642 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | 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.