Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13902 | 41929;41930;41931 | chr2:178635620;178635619;178635618 | chr2:179500347;179500346;179500345 |
| N2AB | 12261 | 37006;37007;37008 | chr2:178635620;178635619;178635618 | chr2:179500347;179500346;179500345 |
| N2A | 11334 | 34225;34226;34227 | chr2:178635620;178635619;178635618 | chr2:179500347;179500346;179500345 |
| N2B | 4837 | 14734;14735;14736 | chr2:178635620;178635619;178635618 | chr2:179500347;179500346;179500345 |
| Novex-1 | 4962 | 15109;15110;15111 | chr2:178635620;178635619;178635618 | chr2:179500347;179500346;179500345 |
| Novex-2 | 5029 | 15310;15311;15312 | chr2:178635620;178635619;178635618 | chr2:179500347;179500346;179500345 |
| 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/T | rs865776326  |
None | 1.0 | N | 0.796 | 0.432 | 0.400899426204 | gnomAD-4.0.0 | 1.64128E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.49102E-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 | 0.3713 | ambiguous | 0.3555 | ambiguous | -0.296 | Destabilizing | 0.999 | D | 0.775 | deleterious | N | 0.463686008 | None | None | N |
| P/C | 0.9676 | likely_pathogenic | 0.9549 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.694 | prob.delet. | None | None | None | None | N |
| P/D | 0.8905 | likely_pathogenic | 0.853 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/E | 0.7883 | likely_pathogenic | 0.7329 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/F | 0.9736 | likely_pathogenic | 0.9651 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/G | 0.8152 | likely_pathogenic | 0.7882 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/H | 0.8019 | likely_pathogenic | 0.7645 | pathogenic | 0.005 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| P/I | 0.8816 | likely_pathogenic | 0.8644 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.685 | prob.delet. | None | None | None | None | N |
| P/K | 0.7986 | likely_pathogenic | 0.7637 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| P/L | 0.6461 | likely_pathogenic | 0.5946 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.543888791 | None | None | N |
| P/M | 0.8839 | likely_pathogenic | 0.8745 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.705 | prob.delet. | None | None | None | None | N |
| P/N | 0.8762 | likely_pathogenic | 0.8518 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/Q | 0.6435 | likely_pathogenic | 0.6104 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.549619136 | None | None | N |
| P/R | 0.6935 | likely_pathogenic | 0.6728 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.749 | deleterious | D | 0.548857873 | None | None | N |
| P/S | 0.5918 | likely_pathogenic | 0.5465 | ambiguous | -0.349 | Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.505330586 | None | None | N |
| P/T | 0.574 | likely_pathogenic | 0.5305 | ambiguous | -0.392 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.505330586 | None | None | N |
| P/V | 0.7437 | likely_pathogenic | 0.7274 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/W | 0.9846 | likely_pathogenic | 0.9805 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.69 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9583 | likely_pathogenic | 0.9449 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.747 | 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.