Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16855 | 50788;50789;50790 | chr2:178611666;178611665;178611664 | chr2:179476393;179476392;179476391 |
| N2AB | 15214 | 45865;45866;45867 | chr2:178611666;178611665;178611664 | chr2:179476393;179476392;179476391 |
| N2A | 14287 | 43084;43085;43086 | chr2:178611666;178611665;178611664 | chr2:179476393;179476392;179476391 |
| N2B | 7790 | 23593;23594;23595 | chr2:178611666;178611665;178611664 | chr2:179476393;179476392;179476391 |
| Novex-1 | 7915 | 23968;23969;23970 | chr2:178611666;178611665;178611664 | chr2:179476393;179476392;179476391 |
| Novex-2 | 7982 | 24169;24170;24171 | chr2:178611666;178611665;178611664 | chr2:179476393;179476392;179476391 |
| 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 | rs767521432  |
-0.863 | 0.999 | D | 0.865 | 0.423 | 0.677064111946 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| P/L | rs767521432 |
-0.863 | 0.999 | D | 0.865 | 0.423 | 0.677064111946 | gnomAD-4.0.0 | 6.84628E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99821E-07 | 0 | 0 |
| P/R | None | None | 0.999 | D | 0.888 | 0.418 | 0.476364732183 | gnomAD-4.0.0 | 1.36926E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32137E-05 | 0 |
| P/S | None | None | 0.998 | D | 0.837 | 0.32 | 0.347217280506 | gnomAD-4.0.0 | 1.59346E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43468E-05 | 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 | 0.1822 | likely_benign | 0.2124 | benign | -1.8 | Destabilizing | 0.767 | D | 0.549 | neutral | N | 0.470997683 | None | None | N |
| P/C | 0.8703 | likely_pathogenic | 0.883 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/D | 0.9691 | likely_pathogenic | 0.9721 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/E | 0.8425 | likely_pathogenic | 0.854 | pathogenic | -2.235 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/F | 0.9446 | likely_pathogenic | 0.9441 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/G | 0.8169 | likely_pathogenic | 0.8425 | pathogenic | -2.126 | Highly Destabilizing | 0.997 | D | 0.851 | deleterious | None | None | None | None | N |
| P/H | 0.7612 | likely_pathogenic | 0.7689 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/I | 0.8599 | likely_pathogenic | 0.8632 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/K | 0.8036 | likely_pathogenic | 0.8361 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/L | 0.584 | likely_pathogenic | 0.5854 | pathogenic | -0.977 | Destabilizing | 0.999 | D | 0.865 | deleterious | D | 0.644742688 | None | None | N |
| P/M | 0.8379 | likely_pathogenic | 0.847 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/N | 0.9323 | likely_pathogenic | 0.9369 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/Q | 0.6231 | likely_pathogenic | 0.6576 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.58501907 | None | None | N |
| P/R | 0.6602 | likely_pathogenic | 0.6927 | pathogenic | -0.896 | Destabilizing | 0.999 | D | 0.888 | deleterious | D | 0.580052951 | None | None | N |
| P/S | 0.4937 | ambiguous | 0.5116 | ambiguous | -1.863 | Destabilizing | 0.998 | D | 0.837 | deleterious | D | 0.543244472 | None | None | N |
| P/T | 0.6057 | likely_pathogenic | 0.6258 | pathogenic | -1.739 | Destabilizing | 0.999 | D | 0.856 | deleterious | D | 0.628204639 | None | None | N |
| P/V | 0.7052 | likely_pathogenic | 0.7205 | pathogenic | -1.22 | Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| P/W | 0.9843 | likely_pathogenic | 0.9838 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/Y | 0.9392 | likely_pathogenic | 0.9402 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.903 | 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.