Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20482 | 61669;61670;61671 | chr2:178590281;178590280;178590279 | chr2:179455008;179455007;179455006 |
| N2AB | 18841 | 56746;56747;56748 | chr2:178590281;178590280;178590279 | chr2:179455008;179455007;179455006 |
| N2A | 17914 | 53965;53966;53967 | chr2:178590281;178590280;178590279 | chr2:179455008;179455007;179455006 |
| N2B | 11417 | 34474;34475;34476 | chr2:178590281;178590280;178590279 | chr2:179455008;179455007;179455006 |
| Novex-1 | 11542 | 34849;34850;34851 | chr2:178590281;178590280;178590279 | chr2:179455008;179455007;179455006 |
| Novex-2 | 11609 | 35050;35051;35052 | chr2:178590281;178590280;178590279 | chr2:179455008;179455007;179455006 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | N | 0.844 | 0.509 | 0.73409723825 | gnomAD-4.0.0 | 4.93422E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.41534E-06 | 0 | 0 |
| C/Y | rs1457364268  |
-1.038 | 1.0 | N | 0.83 | 0.427 | 0.572862713182 | gnomAD-2.1.1 | 4.71E-06 | None | None | None | None | N | None | 0 | 3.34E-05 | None | 0 | 0 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6201 | likely_pathogenic | 0.6474 | pathogenic | -1.208 | Destabilizing | 0.998 | D | 0.594 | neutral | None | None | None | None | N |
| C/D | 0.9751 | likely_pathogenic | 0.977 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| C/E | 0.9823 | likely_pathogenic | 0.984 | pathogenic | 0.071 | Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| C/F | 0.5722 | likely_pathogenic | 0.599 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.43484898 | None | None | N |
| C/G | 0.4763 | ambiguous | 0.4967 | ambiguous | -1.438 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.487547314 | None | None | N |
| C/H | 0.9126 | likely_pathogenic | 0.9252 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| C/I | 0.75 | likely_pathogenic | 0.798 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| C/K | 0.9899 | likely_pathogenic | 0.9913 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| C/L | 0.6731 | likely_pathogenic | 0.6976 | pathogenic | -0.661 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| C/M | 0.7623 | likely_pathogenic | 0.7844 | pathogenic | -0.104 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| C/N | 0.8441 | likely_pathogenic | 0.8731 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| C/P | 0.9896 | likely_pathogenic | 0.9907 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| C/Q | 0.9414 | likely_pathogenic | 0.9491 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| C/R | 0.946 | likely_pathogenic | 0.9513 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.46930827 | None | None | N |
| C/S | 0.4909 | ambiguous | 0.5398 | ambiguous | -0.664 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.458091199 | None | None | N |
| C/T | 0.6569 | likely_pathogenic | 0.6903 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| C/V | 0.5717 | likely_pathogenic | 0.6132 | pathogenic | -0.818 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| C/W | 0.8931 | likely_pathogenic | 0.901 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.488240748 | None | None | N |
| C/Y | 0.7433 | likely_pathogenic | 0.7762 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.409875964 | 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.