Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5970 | 18133;18134;18135 | chr2:178730625;178730624;178730623 | chr2:179595352;179595351;179595350 |
| N2AB | 5653 | 17182;17183;17184 | chr2:178730625;178730624;178730623 | chr2:179595352;179595351;179595350 |
| N2A | 4726 | 14401;14402;14403 | chr2:178730625;178730624;178730623 | chr2:179595352;179595351;179595350 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/P | rs539871760  |
0.68 | 0.822 | N | 0.35 | 0.259 | 0.42324137094 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| H/P | rs539871760 |
0.68 | 0.822 | N | 0.35 | 0.259 | 0.42324137094 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| H/P | rs539871760 |
0.68 | 0.822 | N | 0.35 | 0.259 | 0.42324137094 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| H/P | rs539871760 |
0.68 | 0.822 | N | 0.35 | 0.259 | 0.42324137094 | gnomAD-4.0.0 | 6.56676E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| H/R | rs539871760 |
-0.086 | 0.175 | N | 0.228 | 0.196 | 0.236278675362 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.4791 | ambiguous | 0.5321 | ambiguous | -0.356 | Destabilizing | 0.104 | N | 0.338 | neutral | None | None | None | None | N |
| H/C | 0.3772 | ambiguous | 0.3903 | ambiguous | 0.302 | Stabilizing | 0.958 | D | 0.284 | neutral | None | None | None | None | N |
| H/D | 0.374 | ambiguous | 0.4237 | ambiguous | -0.142 | Destabilizing | 0.096 | N | 0.319 | neutral | N | 0.454171899 | None | None | N |
| H/E | 0.411 | ambiguous | 0.457 | ambiguous | -0.061 | Destabilizing | 0.002 | N | 0.113 | neutral | None | None | None | None | N |
| H/F | 0.4501 | ambiguous | 0.4619 | ambiguous | 0.755 | Stabilizing | None | N | 0.141 | neutral | None | None | None | None | N |
| H/G | 0.5253 | ambiguous | 0.5833 | pathogenic | -0.694 | Destabilizing | 0.364 | N | 0.352 | neutral | None | None | None | None | N |
| H/I | 0.449 | ambiguous | 0.4813 | ambiguous | 0.555 | Stabilizing | 0.22 | N | 0.362 | neutral | None | None | None | None | N |
| H/K | 0.3282 | likely_benign | 0.3647 | ambiguous | -0.078 | Destabilizing | 0.22 | N | 0.333 | neutral | None | None | None | None | N |
| H/L | 0.1896 | likely_benign | 0.211 | benign | 0.555 | Stabilizing | 0.042 | N | 0.343 | neutral | N | 0.477280832 | None | None | N |
| H/M | 0.5923 | likely_pathogenic | 0.6307 | pathogenic | 0.318 | Stabilizing | 0.667 | D | 0.295 | neutral | None | None | None | None | N |
| H/N | 0.1789 | likely_benign | 0.2091 | benign | -0.276 | Destabilizing | 0.301 | N | 0.218 | neutral | N | 0.475085889 | None | None | N |
| H/P | 0.6571 | likely_pathogenic | 0.6722 | pathogenic | 0.274 | Stabilizing | 0.822 | D | 0.35 | neutral | N | 0.488767262 | None | None | N |
| H/Q | 0.2367 | likely_benign | 0.2661 | benign | -0.093 | Destabilizing | 0.175 | N | 0.219 | neutral | N | 0.470122786 | None | None | N |
| H/R | 0.1328 | likely_benign | 0.1443 | benign | -0.54 | Destabilizing | 0.175 | N | 0.228 | neutral | N | 0.477222117 | None | None | N |
| H/S | 0.3488 | ambiguous | 0.4052 | ambiguous | -0.312 | Destabilizing | 0.22 | N | 0.317 | neutral | None | None | None | None | N |
| H/T | 0.4281 | ambiguous | 0.4807 | ambiguous | -0.119 | Destabilizing | 0.22 | N | 0.341 | neutral | None | None | None | None | N |
| H/V | 0.3997 | ambiguous | 0.4395 | ambiguous | 0.274 | Stabilizing | 0.22 | N | 0.365 | neutral | None | None | None | None | N |
| H/W | 0.5136 | ambiguous | 0.5131 | ambiguous | 1.01 | Stabilizing | 0.667 | D | 0.293 | neutral | None | None | None | None | N |
| H/Y | 0.1675 | likely_benign | 0.1776 | benign | 1.109 | Stabilizing | None | N | 0.115 | neutral | N | 0.514164352 | 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.