Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15245 | 45958;45959;45960 | chr2:178620877;178620876;178620875 | chr2:179485604;179485603;179485602 |
| N2AB | 13604 | 41035;41036;41037 | chr2:178620877;178620876;178620875 | chr2:179485604;179485603;179485602 |
| N2A | 12677 | 38254;38255;38256 | chr2:178620877;178620876;178620875 | chr2:179485604;179485603;179485602 |
| N2B | 6180 | 18763;18764;18765 | chr2:178620877;178620876;178620875 | chr2:179485604;179485603;179485602 |
| Novex-1 | 6305 | 19138;19139;19140 | chr2:178620877;178620876;178620875 | chr2:179485604;179485603;179485602 |
| Novex-2 | 6372 | 19339;19340;19341 | chr2:178620877;178620876;178620875 | chr2:179485604;179485603;179485602 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1310228213  |
-0.69 | 0.998 | N | 0.622 | 0.576 | 0.469248961376 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14916E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/A | rs1310228213 |
-0.69 | 0.998 | N | 0.622 | 0.576 | 0.469248961376 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| E/A | rs1310228213 |
-0.69 | 0.998 | N | 0.622 | 0.576 | 0.469248961376 | gnomAD-4.0.0 | 1.97483E-05 | None | None | None | None | N | None | 4.83022E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| E/K | rs774793155 |
None | 0.998 | N | 0.544 | 0.409 | 0.395143324098 | gnomAD-4.0.0 | 1.59387E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88537E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2128 | likely_benign | 0.217 | benign | -0.499 | Destabilizing | 0.998 | D | 0.622 | neutral | N | 0.51283326 | None | None | N |
| E/C | 0.9368 | likely_pathogenic | 0.9371 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| E/D | 0.1862 | likely_benign | 0.1884 | benign | -0.473 | Destabilizing | 0.434 | N | 0.29 | neutral | N | 0.508261842 | None | None | N |
| E/F | 0.8539 | likely_pathogenic | 0.8496 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/G | 0.2735 | likely_benign | 0.2786 | benign | -0.728 | Destabilizing | 0.999 | D | 0.653 | neutral | D | 0.606430839 | None | None | N |
| E/H | 0.6367 | likely_pathogenic | 0.6361 | pathogenic | -0.026 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| E/I | 0.4337 | ambiguous | 0.4491 | ambiguous | 0.083 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| E/K | 0.1779 | likely_benign | 0.1768 | benign | 0.016 | Stabilizing | 0.998 | D | 0.544 | neutral | N | 0.48515582 | None | None | N |
| E/L | 0.5685 | likely_pathogenic | 0.586 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| E/M | 0.5299 | ambiguous | 0.543 | ambiguous | 0.141 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| E/N | 0.3278 | likely_benign | 0.3307 | benign | -0.324 | Destabilizing | 0.999 | D | 0.622 | neutral | None | None | None | None | N |
| E/P | 0.9524 | likely_pathogenic | 0.9457 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| E/Q | 0.18 | likely_benign | 0.1865 | benign | -0.269 | Destabilizing | 0.999 | D | 0.566 | neutral | N | 0.500370356 | None | None | N |
| E/R | 0.3688 | ambiguous | 0.3709 | ambiguous | 0.328 | Stabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| E/S | 0.3201 | likely_benign | 0.3236 | benign | -0.512 | Destabilizing | 0.997 | D | 0.557 | neutral | None | None | None | None | N |
| E/T | 0.2703 | likely_benign | 0.2778 | benign | -0.328 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| E/V | 0.2444 | likely_benign | 0.2543 | benign | -0.091 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.501142673 | None | None | N |
| E/W | 0.9599 | likely_pathogenic | 0.958 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| E/Y | 0.7742 | likely_pathogenic | 0.7668 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.703 | prob.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.