Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29662 | 89209;89210;89211 | chr2:178554127;178554126;178554125 | chr2:179418854;179418853;179418852 |
| N2AB | 28021 | 84286;84287;84288 | chr2:178554127;178554126;178554125 | chr2:179418854;179418853;179418852 |
| N2A | 27094 | 81505;81506;81507 | chr2:178554127;178554126;178554125 | chr2:179418854;179418853;179418852 |
| N2B | 20597 | 62014;62015;62016 | chr2:178554127;178554126;178554125 | chr2:179418854;179418853;179418852 |
| Novex-1 | 20722 | 62389;62390;62391 | chr2:178554127;178554126;178554125 | chr2:179418854;179418853;179418852 |
| Novex-2 | 20789 | 62590;62591;62592 | chr2:178554127;178554126;178554125 | chr2:179418854;179418853;179418852 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs187460377  |
-0.318 | 1.0 | N | 0.703 | 0.413 | None | gnomAD-2.1.1 | 2.22023E-04 | None | None | None | None | I | None | 6.6143E-04 | 5.37452E-04 | None | 0 | 1.12751E-03 | None | 0 | None | 0 | 2.36E-05 | 2.81611E-04 |
| G/S | rs187460377 |
-0.318 | 1.0 | N | 0.703 | 0.413 | None | gnomAD-3.1.2 | 1.90611E-04 | None | None | None | None | I | None | 4.82695E-04 | 0 | 0 | 0 | 1.15964E-03 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/S | rs187460377 |
-0.318 | 1.0 | N | 0.703 | 0.413 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/S | rs187460377 |
-0.318 | 1.0 | N | 0.703 | 0.413 | None | gnomAD-4.0.0 | 7.1879E-05 | None | None | None | None | I | None | 5.59806E-04 | 3.33244E-04 | None | 0 | 2.67535E-04 | None | 0 | 1.65071E-04 | 3.13614E-05 | 0 | 6.40164E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7154 | likely_pathogenic | 0.7609 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.510541307 | None | None | I |
| G/C | 0.7769 | likely_pathogenic | 0.8245 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.551562437 | None | None | I |
| G/D | 0.8461 | likely_pathogenic | 0.874 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.527671283 | None | None | I |
| G/E | 0.8891 | likely_pathogenic | 0.9114 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/F | 0.9595 | likely_pathogenic | 0.9673 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/H | 0.8977 | likely_pathogenic | 0.9246 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/I | 0.9494 | likely_pathogenic | 0.9595 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.8828 | likely_pathogenic | 0.9108 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/L | 0.9377 | likely_pathogenic | 0.9491 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/M | 0.949 | likely_pathogenic | 0.9601 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/N | 0.7818 | likely_pathogenic | 0.8241 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/P | 0.993 | likely_pathogenic | 0.9953 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/Q | 0.8324 | likely_pathogenic | 0.8687 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/R | 0.8049 | likely_pathogenic | 0.8508 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.507605245 | None | None | I |
| G/S | 0.4812 | ambiguous | 0.5451 | ambiguous | -0.372 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.513832989 | None | None | I |
| G/T | 0.8629 | likely_pathogenic | 0.8876 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/V | 0.9224 | likely_pathogenic | 0.9367 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.540041547 | None | None | I |
| G/W | 0.9448 | likely_pathogenic | 0.96 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/Y | 0.9243 | likely_pathogenic | 0.9412 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
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.