Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34270 | 103033;103034;103035 | chr2:178533807;178533806;178533805 | chr2:179398534;179398533;179398532 |
| N2AB | 32629 | 98110;98111;98112 | chr2:178533807;178533806;178533805 | chr2:179398534;179398533;179398532 |
| N2A | 31702 | 95329;95330;95331 | chr2:178533807;178533806;178533805 | chr2:179398534;179398533;179398532 |
| N2B | 25205 | 75838;75839;75840 | chr2:178533807;178533806;178533805 | chr2:179398534;179398533;179398532 |
| Novex-1 | 25330 | 76213;76214;76215 | chr2:178533807;178533806;178533805 | chr2:179398534;179398533;179398532 |
| Novex-2 | 25397 | 76414;76415;76416 | chr2:178533807;178533806;178533805 | chr2:179398534;179398533;179398532 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs1339846795  |
0.51 | 0.997 | N | 0.579 | 0.478 | 0.427254322456 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| Y/H | rs1339846795 |
0.51 | 0.997 | N | 0.579 | 0.478 | 0.427254322456 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/H | rs1339846795 |
0.51 | 0.997 | N | 0.579 | 0.478 | 0.427254322456 | gnomAD-4.0.0 | 6.57099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4699E-05 | 0 | 0 |
| Y/S | rs773071400 |
-0.245 | 0.964 | N | 0.56 | 0.387 | 0.605049500696 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/S | rs773071400 |
-0.245 | 0.964 | N | 0.56 | 0.387 | 0.605049500696 | gnomAD-4.0.0 | 3.18189E-06 | None | None | None | None | N | None | 0 | 4.57268E-05 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.5755 | likely_pathogenic | 0.6328 | pathogenic | -0.516 | Destabilizing | 0.06 | N | 0.527 | neutral | None | None | None | None | N |
| Y/C | 0.2004 | likely_benign | 0.2648 | benign | 0.169 | Stabilizing | 0.999 | D | 0.636 | neutral | N | 0.495135874 | None | None | N |
| Y/D | 0.5321 | ambiguous | 0.6149 | pathogenic | 1.0 | Stabilizing | 0.991 | D | 0.651 | neutral | N | 0.441570748 | None | None | N |
| Y/E | 0.8065 | likely_pathogenic | 0.8377 | pathogenic | 0.977 | Stabilizing | 0.986 | D | 0.628 | neutral | None | None | None | None | N |
| Y/F | 0.1016 | likely_benign | 0.1001 | benign | -0.232 | Destabilizing | 0.969 | D | 0.568 | neutral | N | 0.457964353 | None | None | N |
| Y/G | 0.6187 | likely_pathogenic | 0.6866 | pathogenic | -0.69 | Destabilizing | 0.91 | D | 0.596 | neutral | None | None | None | None | N |
| Y/H | 0.2894 | likely_benign | 0.3398 | benign | 0.303 | Stabilizing | 0.997 | D | 0.579 | neutral | N | 0.499464259 | None | None | N |
| Y/I | 0.6013 | likely_pathogenic | 0.6451 | pathogenic | -0.089 | Destabilizing | 0.986 | D | 0.605 | neutral | None | None | None | None | N |
| Y/K | 0.761 | likely_pathogenic | 0.7908 | pathogenic | 0.291 | Stabilizing | 0.986 | D | 0.633 | neutral | None | None | None | None | N |
| Y/L | 0.5267 | ambiguous | 0.5698 | pathogenic | -0.089 | Destabilizing | 0.953 | D | 0.614 | neutral | None | None | None | None | N |
| Y/M | 0.7082 | likely_pathogenic | 0.7306 | pathogenic | -0.015 | Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | N |
| Y/N | 0.3245 | likely_benign | 0.3722 | ambiguous | 0.101 | Stabilizing | 0.991 | D | 0.628 | neutral | N | 0.452267744 | None | None | N |
| Y/P | 0.8126 | likely_pathogenic | 0.8333 | pathogenic | -0.211 | Destabilizing | 0.993 | D | 0.651 | neutral | None | None | None | None | N |
| Y/Q | 0.6999 | likely_pathogenic | 0.742 | pathogenic | 0.156 | Stabilizing | 0.993 | D | 0.597 | neutral | None | None | None | None | N |
| Y/R | 0.5513 | ambiguous | 0.6005 | pathogenic | 0.494 | Stabilizing | 0.993 | D | 0.631 | neutral | None | None | None | None | N |
| Y/S | 0.3069 | likely_benign | 0.3589 | ambiguous | -0.314 | Destabilizing | 0.964 | D | 0.56 | neutral | N | 0.433487196 | None | None | N |
| Y/T | 0.5667 | likely_pathogenic | 0.6171 | pathogenic | -0.247 | Destabilizing | 0.986 | D | 0.566 | neutral | None | None | None | None | N |
| Y/V | 0.4642 | ambiguous | 0.4979 | ambiguous | -0.211 | Destabilizing | 0.91 | D | 0.621 | neutral | None | None | None | None | N |
| Y/W | 0.4193 | ambiguous | 0.4417 | ambiguous | -0.393 | Destabilizing | 0.999 | D | 0.564 | neutral | 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.