Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5493 | 16702;16703;16704 | chr2:178732584;178732583;178732582 | chr2:179597311;179597310;179597309 |
| N2AB | 5176 | 15751;15752;15753 | chr2:178732584;178732583;178732582 | chr2:179597311;179597310;179597309 |
| N2A | 4249 | 12970;12971;12972 | chr2:178732584;178732583;178732582 | chr2:179597311;179597310;179597309 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1418252439  |
-0.068 | 1.0 | N | 0.655 | 0.418 | 0.19670166235 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1418252439 |
-0.068 | 1.0 | N | 0.655 | 0.418 | 0.19670166235 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| G/D | rs1418252439 |
-0.068 | 1.0 | N | 0.655 | 0.418 | 0.19670166235 | gnomAD-4.0.0 | 4.06003E-06 | None | None | None | None | I | None | 3.49601E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.3985E-05 | 0 |
| G/S | rs377042940 |
-0.345 | 1.0 | N | 0.667 | 0.288 | None | gnomAD-2.1.1 | 1.03706E-04 | None | None | None | None | I | None | 1.19973E-03 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs377042940 |
-0.345 | 1.0 | N | 0.667 | 0.288 | None | gnomAD-3.1.2 | 2.36777E-04 | None | None | None | None | I | None | 8.69607E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs377042940 |
-0.345 | 1.0 | N | 0.667 | 0.288 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | I | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/S | rs377042940 |
-0.345 | 1.0 | N | 0.667 | 0.288 | None | gnomAD-4.0.0 | 4.27613E-05 | None | None | None | None | I | None | 9.06739E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60072E-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 | 0.1706 | likely_benign | 0.1952 | benign | -0.207 | Destabilizing | 0.999 | D | 0.505 | neutral | N | 0.464974959 | None | None | I |
| G/C | 0.3397 | likely_benign | 0.402 | ambiguous | -0.874 | Destabilizing | 0.953 | D | 0.595 | neutral | N | 0.509287771 | None | None | I |
| G/D | 0.2212 | likely_benign | 0.3018 | benign | 0.007 | Stabilizing | 1.0 | D | 0.655 | neutral | N | 0.455007324 | None | None | I |
| G/E | 0.2714 | likely_benign | 0.3966 | ambiguous | -0.138 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/F | 0.6461 | likely_pathogenic | 0.762 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/H | 0.4326 | ambiguous | 0.5435 | ambiguous | -0.344 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| G/I | 0.4831 | ambiguous | 0.6139 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/K | 0.404 | ambiguous | 0.5812 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/L | 0.5288 | ambiguous | 0.6394 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| G/M | 0.5721 | likely_pathogenic | 0.6841 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/N | 0.3003 | likely_benign | 0.3613 | ambiguous | -0.268 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| G/P | 0.8469 | likely_pathogenic | 0.9133 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/Q | 0.3449 | ambiguous | 0.4616 | ambiguous | -0.462 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/R | 0.2604 | likely_benign | 0.3972 | ambiguous | -0.231 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.474040313 | None | None | I |
| G/S | 0.1001 | likely_benign | 0.1063 | benign | -0.496 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.472079216 | None | None | I |
| G/T | 0.1868 | likely_benign | 0.2067 | benign | -0.553 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/V | 0.3309 | likely_benign | 0.4244 | ambiguous | -0.272 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.494057126 | None | None | I |
| G/W | 0.4892 | ambiguous | 0.6178 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/Y | 0.5344 | ambiguous | 0.6823 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.797 | 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.