Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33618 | 101077;101078;101079 | chr2:178535763;178535762;178535761 | chr2:179400490;179400489;179400488 |
| N2AB | 31977 | 96154;96155;96156 | chr2:178535763;178535762;178535761 | chr2:179400490;179400489;179400488 |
| N2A | 31050 | 93373;93374;93375 | chr2:178535763;178535762;178535761 | chr2:179400490;179400489;179400488 |
| N2B | 24553 | 73882;73883;73884 | chr2:178535763;178535762;178535761 | chr2:179400490;179400489;179400488 |
| Novex-1 | 24678 | 74257;74258;74259 | chr2:178535763;178535762;178535761 | chr2:179400490;179400489;179400488 |
| Novex-2 | 24745 | 74458;74459;74460 | chr2:178535763;178535762;178535761 | chr2:179400490;179400489;179400488 |
| 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 | rs748684753  |
-0.115 | 1.0 | D | 0.739 | 0.528 | 0.831048749909 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/L | rs748684753 |
-0.115 | 1.0 | D | 0.739 | 0.528 | 0.831048749909 | gnomAD-4.0.0 | 1.59187E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| P/S | None | None | 1.0 | N | 0.754 | 0.398 | 0.487843537783 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85863E-06 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.747 | 0.44 | 0.618635891131 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.89065E-05 | 0 | 0 | 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 | 0.7625 | likely_pathogenic | 0.4715 | ambiguous | -0.925 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.526514787 | None | None | N |
| P/C | 0.9929 | likely_pathogenic | 0.96 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/D | 0.9914 | likely_pathogenic | 0.9566 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| P/E | 0.9813 | likely_pathogenic | 0.9145 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/F | 0.9969 | likely_pathogenic | 0.976 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/G | 0.9609 | likely_pathogenic | 0.882 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| P/H | 0.9666 | likely_pathogenic | 0.8372 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.527381579 | None | None | N |
| P/I | 0.9893 | likely_pathogenic | 0.9368 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/K | 0.9845 | likely_pathogenic | 0.924 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/L | 0.9141 | likely_pathogenic | 0.6876 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.533480832 | None | None | N |
| P/M | 0.989 | likely_pathogenic | 0.9381 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| P/N | 0.9808 | likely_pathogenic | 0.9189 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| P/Q | 0.9487 | likely_pathogenic | 0.7844 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/R | 0.9527 | likely_pathogenic | 0.8011 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.499674902 | None | None | N |
| P/S | 0.9045 | likely_pathogenic | 0.6739 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.513681563 | None | None | N |
| P/T | 0.9287 | likely_pathogenic | 0.7053 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.515719003 | None | None | N |
| P/V | 0.9754 | likely_pathogenic | 0.879 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| P/W | 0.9986 | likely_pathogenic | 0.99 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9951 | likely_pathogenic | 0.9676 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.749 | 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.