Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17087 | 51484;51485;51486 | chr2:178610267;178610266;178610265 | chr2:179474994;179474993;179474992 |
| N2AB | 15446 | 46561;46562;46563 | chr2:178610267;178610266;178610265 | chr2:179474994;179474993;179474992 |
| N2A | 14519 | 43780;43781;43782 | chr2:178610267;178610266;178610265 | chr2:179474994;179474993;179474992 |
| N2B | 8022 | 24289;24290;24291 | chr2:178610267;178610266;178610265 | chr2:179474994;179474993;179474992 |
| Novex-1 | 8147 | 24664;24665;24666 | chr2:178610267;178610266;178610265 | chr2:179474994;179474993;179474992 |
| Novex-2 | 8214 | 24865;24866;24867 | chr2:178610267;178610266;178610265 | chr2:179474994;179474993;179474992 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1483164102  |
-2.558 | 1.0 | N | 0.767 | 0.537 | 0.506912157699 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs1483164102 |
-2.558 | 1.0 | N | 0.767 | 0.537 | 0.506912157699 | gnomAD-4.0.0 | 2.73803E-06 | None | None | None | None | N | None | 8.97827E-05 | 2.23674E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | None | None | 1.0 | N | 0.75 | 0.481 | 0.451504584351 | gnomAD-4.0.0 | 1.59284E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86172E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9948 | likely_pathogenic | 0.9932 | pathogenic | -2.236 | Highly Destabilizing | 0.999 | D | 0.524 | neutral | None | None | None | None | N |
| R/C | 0.8927 | likely_pathogenic | 0.8742 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| R/D | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| R/E | 0.9903 | likely_pathogenic | 0.9873 | pathogenic | -0.592 | Destabilizing | 0.999 | D | 0.521 | neutral | None | None | None | None | N |
| R/F | 0.9963 | likely_pathogenic | 0.9943 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| R/G | 0.9907 | likely_pathogenic | 0.9882 | pathogenic | -2.585 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.502883714 | None | None | N |
| R/H | 0.8654 | likely_pathogenic | 0.8258 | pathogenic | -2.245 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| R/I | 0.9922 | likely_pathogenic | 0.9902 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.916 | deleterious | N | 0.494894771 | None | None | N |
| R/K | 0.569 | likely_pathogenic | 0.5272 | ambiguous | -1.381 | Destabilizing | 0.997 | D | 0.469 | neutral | N | 0.47740297 | None | None | N |
| R/L | 0.9741 | likely_pathogenic | 0.964 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/M | 0.9821 | likely_pathogenic | 0.9773 | pathogenic | -1.591 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| R/N | 0.9975 | likely_pathogenic | 0.9968 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| R/P | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| R/Q | 0.7628 | likely_pathogenic | 0.7254 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| R/S | 0.9978 | likely_pathogenic | 0.997 | pathogenic | -2.345 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.46840627 | None | None | N |
| R/T | 0.9958 | likely_pathogenic | 0.9943 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.483284976 | None | None | N |
| R/V | 0.9915 | likely_pathogenic | 0.9891 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| R/W | 0.9609 | likely_pathogenic | 0.9386 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| R/Y | 0.9874 | likely_pathogenic | 0.9816 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.915 | 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.