Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15009 | 45250;45251;45252 | chr2:178621897;178621896;178621895 | chr2:179486624;179486623;179486622 |
| N2AB | 13368 | 40327;40328;40329 | chr2:178621897;178621896;178621895 | chr2:179486624;179486623;179486622 |
| N2A | 12441 | 37546;37547;37548 | chr2:178621897;178621896;178621895 | chr2:179486624;179486623;179486622 |
| N2B | 5944 | 18055;18056;18057 | chr2:178621897;178621896;178621895 | chr2:179486624;179486623;179486622 |
| Novex-1 | 6069 | 18430;18431;18432 | chr2:178621897;178621896;178621895 | chr2:179486624;179486623;179486622 |
| Novex-2 | 6136 | 18631;18632;18633 | chr2:178621897;178621896;178621895 | chr2:179486624;179486623;179486622 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1196708589  |
-0.94 | 1.0 | D | 0.791 | 0.455 | 0.32082282376 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs1196708589 |
-0.94 | 1.0 | D | 0.791 | 0.455 | 0.32082282376 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1196708589 |
-0.94 | 1.0 | D | 0.791 | 0.455 | 0.32082282376 | gnomAD-4.0.0 | 6.58025E-06 | None | None | None | None | N | None | 2.41464E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1196708589 |
None | 1.0 | D | 0.804 | 0.348 | 0.257786959452 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| A/T | rs1196708589 |
None | 1.0 | D | 0.804 | 0.348 | 0.257786959452 | gnomAD-4.0.0 | 6.58025E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8435 | likely_pathogenic | 0.8694 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/D | 0.7134 | likely_pathogenic | 0.7806 | pathogenic | -1.75 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.443577331 | None | None | N |
| A/E | 0.7801 | likely_pathogenic | 0.7993 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/F | 0.8956 | likely_pathogenic | 0.8962 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/G | 0.1245 | likely_benign | 0.1657 | benign | -1.365 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.358262163 | None | None | N |
| A/H | 0.9311 | likely_pathogenic | 0.9419 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/I | 0.9137 | likely_pathogenic | 0.9348 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/K | 0.9041 | likely_pathogenic | 0.9292 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/L | 0.7399 | likely_pathogenic | 0.7646 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/M | 0.7251 | likely_pathogenic | 0.7587 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/N | 0.7417 | likely_pathogenic | 0.7947 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/P | 0.9886 | likely_pathogenic | 0.9903 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.616630114 | None | None | N |
| A/Q | 0.8142 | likely_pathogenic | 0.8323 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/R | 0.8378 | likely_pathogenic | 0.8575 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/S | 0.1628 | likely_benign | 0.1937 | benign | -1.509 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.521291897 | None | None | N |
| A/T | 0.3798 | ambiguous | 0.4209 | ambiguous | -1.36 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.536040885 | None | None | N |
| A/V | 0.6649 | likely_pathogenic | 0.7146 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.615695794 | None | None | N |
| A/W | 0.9848 | likely_pathogenic | 0.986 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9345 | likely_pathogenic | 0.9424 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.783 | 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.