Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14295 | 43108;43109;43110 | chr2:178633476;178633475;178633474 | chr2:179498203;179498202;179498201 |
| N2AB | 12654 | 38185;38186;38187 | chr2:178633476;178633475;178633474 | chr2:179498203;179498202;179498201 |
| N2A | 11727 | 35404;35405;35406 | chr2:178633476;178633475;178633474 | chr2:179498203;179498202;179498201 |
| N2B | 5230 | 15913;15914;15915 | chr2:178633476;178633475;178633474 | chr2:179498203;179498202;179498201 |
| Novex-1 | 5355 | 16288;16289;16290 | chr2:178633476;178633475;178633474 | chr2:179498203;179498202;179498201 |
| Novex-2 | 5422 | 16489;16490;16491 | chr2:178633476;178633475;178633474 | chr2:179498203;179498202;179498201 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | D | 0.772 | 0.831 | 0.794774646785 | gnomAD-4.0.0 | 1.59229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88445E-05 | 0 | 0 | 0 | 0 |
| D/H | rs1162989897  |
0.077 | 1.0 | D | 0.837 | 0.575 | 0.769386222844 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/H | rs1162989897 |
0.077 | 1.0 | D | 0.837 | 0.575 | 0.769386222844 | gnomAD-4.0.0 | 1.59232E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85954E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.936 | likely_pathogenic | 0.8182 | pathogenic | 0.873 | Stabilizing | 1.0 | D | 0.832 | deleterious | D | 0.792741473 | None | None | N |
| D/C | 0.9789 | likely_pathogenic | 0.9424 | pathogenic | 0.665 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/E | 0.8333 | likely_pathogenic | 0.6832 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.583 | neutral | D | 0.759066466 | None | None | N |
| D/F | 0.9825 | likely_pathogenic | 0.9481 | pathogenic | 1.425 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/G | 0.9195 | likely_pathogenic | 0.7803 | pathogenic | 0.371 | Stabilizing | 1.0 | D | 0.772 | deleterious | D | 0.825308458 | None | None | N |
| D/H | 0.9324 | likely_pathogenic | 0.8509 | pathogenic | 0.954 | Stabilizing | 1.0 | D | 0.837 | deleterious | D | 0.727783936 | None | None | N |
| D/I | 0.9751 | likely_pathogenic | 0.9176 | pathogenic | 2.226 | Highly Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/K | 0.9888 | likely_pathogenic | 0.9697 | pathogenic | 0.421 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/L | 0.9706 | likely_pathogenic | 0.9165 | pathogenic | 2.226 | Highly Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/M | 0.9844 | likely_pathogenic | 0.9587 | pathogenic | 2.595 | Highly Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/N | 0.7633 | likely_pathogenic | 0.5131 | ambiguous | -0.437 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.689636625 | None | None | N |
| D/P | 0.9984 | likely_pathogenic | 0.9945 | pathogenic | 1.808 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/Q | 0.9677 | likely_pathogenic | 0.9244 | pathogenic | 0.004 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| D/R | 0.9912 | likely_pathogenic | 0.9764 | pathogenic | 0.235 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/S | 0.8907 | likely_pathogenic | 0.7047 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/T | 0.9552 | likely_pathogenic | 0.8766 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/V | 0.9312 | likely_pathogenic | 0.8044 | pathogenic | 1.808 | Stabilizing | 1.0 | D | 0.841 | deleterious | D | 0.791943668 | None | None | N |
| D/W | 0.9954 | likely_pathogenic | 0.9886 | pathogenic | 1.267 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/Y | 0.8642 | likely_pathogenic | 0.6886 | pathogenic | 1.664 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.792039485 | 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.