Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22699 | 68320;68321;68322 | chr2:178578935;178578934;178578933 | chr2:179443662;179443661;179443660 |
| N2AB | 21058 | 63397;63398;63399 | chr2:178578935;178578934;178578933 | chr2:179443662;179443661;179443660 |
| N2A | 20131 | 60616;60617;60618 | chr2:178578935;178578934;178578933 | chr2:179443662;179443661;179443660 |
| N2B | 13634 | 41125;41126;41127 | chr2:178578935;178578934;178578933 | chr2:179443662;179443661;179443660 |
| Novex-1 | 13759 | 41500;41501;41502 | chr2:178578935;178578934;178578933 | chr2:179443662;179443661;179443660 |
| Novex-2 | 13826 | 41701;41702;41703 | chr2:178578935;178578934;178578933 | chr2:179443662;179443661;179443660 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs727504520  |
0.14 | 0.97 | N | 0.555 | 0.259 | 0.350524144436 | gnomAD-2.1.1 | 5.72E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 6.76852E-04 | 0 | None | 0 | None | 0 | 6.26E-05 | 0 |
| Q/H | rs727504520 |
0.14 | 0.97 | N | 0.555 | 0.259 | 0.350524144436 | gnomAD-3.1.2 | 7.9E-05 | None | None | None | None | N | None | 0 | 2.62329E-04 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 1.02974E-04 | 0 | 0 |
| Q/H | rs727504520 |
0.14 | 0.97 | N | 0.555 | 0.259 | 0.350524144436 | gnomAD-4.0.0 | 1.41962E-04 | None | None | None | None | N | None | 1.33608E-05 | 6.67267E-05 | None | 6.08273E-04 | 0 | None | 0 | 0 | 1.69565E-04 | 0 | 9.61076E-05 |
| Q/P | None | None | 0.97 | N | 0.522 | 0.551 | 0.305410167561 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2521 | likely_benign | 0.243 | benign | -0.175 | Destabilizing | 0.754 | D | 0.522 | neutral | None | None | None | None | N |
| Q/C | 0.8081 | likely_pathogenic | 0.7772 | pathogenic | 0.122 | Stabilizing | 0.998 | D | 0.615 | neutral | None | None | None | None | N |
| Q/D | 0.6029 | likely_pathogenic | 0.5504 | ambiguous | 0.06 | Stabilizing | 0.86 | D | 0.504 | neutral | None | None | None | None | N |
| Q/E | 0.1331 | likely_benign | 0.1234 | benign | 0.035 | Stabilizing | 0.489 | N | 0.389 | neutral | N | 0.467802052 | None | None | N |
| Q/F | 0.8735 | likely_pathogenic | 0.8483 | pathogenic | -0.372 | Destabilizing | 0.993 | D | 0.59 | neutral | None | None | None | None | N |
| Q/G | 0.3336 | likely_benign | 0.3046 | benign | -0.362 | Destabilizing | 0.86 | D | 0.473 | neutral | None | None | None | None | N |
| Q/H | 0.4069 | ambiguous | 0.3667 | ambiguous | -0.216 | Destabilizing | 0.97 | D | 0.555 | neutral | N | 0.471189074 | None | None | N |
| Q/I | 0.5625 | ambiguous | 0.5457 | ambiguous | 0.227 | Stabilizing | 0.978 | D | 0.576 | neutral | None | None | None | None | N |
| Q/K | 0.1843 | likely_benign | 0.1557 | benign | 0.046 | Stabilizing | 0.014 | N | 0.173 | neutral | N | 0.437788576 | None | None | N |
| Q/L | 0.2026 | likely_benign | 0.1927 | benign | 0.227 | Stabilizing | 0.822 | D | 0.473 | neutral | N | 0.489121474 | None | None | N |
| Q/M | 0.4342 | ambiguous | 0.4377 | ambiguous | 0.363 | Stabilizing | 0.993 | D | 0.555 | neutral | None | None | None | None | N |
| Q/N | 0.413 | ambiguous | 0.3766 | ambiguous | -0.273 | Destabilizing | 0.86 | D | 0.503 | neutral | None | None | None | None | N |
| Q/P | 0.1495 | likely_benign | 0.135 | benign | 0.121 | Stabilizing | 0.97 | D | 0.522 | neutral | N | 0.427224866 | None | None | N |
| Q/R | 0.216 | likely_benign | 0.1846 | benign | 0.198 | Stabilizing | 0.698 | D | 0.499 | neutral | N | 0.446138701 | None | None | N |
| Q/S | 0.2799 | likely_benign | 0.2761 | benign | -0.265 | Destabilizing | 0.86 | D | 0.483 | neutral | None | None | None | None | N |
| Q/T | 0.2521 | likely_benign | 0.2344 | benign | -0.136 | Destabilizing | 0.86 | D | 0.5 | neutral | None | None | None | None | N |
| Q/V | 0.3547 | ambiguous | 0.3472 | ambiguous | 0.121 | Stabilizing | 0.956 | D | 0.453 | neutral | None | None | None | None | N |
| Q/W | 0.8134 | likely_pathogenic | 0.7837 | pathogenic | -0.368 | Destabilizing | 0.998 | D | 0.641 | neutral | None | None | None | None | N |
| Q/Y | 0.7263 | likely_pathogenic | 0.6887 | pathogenic | -0.107 | Destabilizing | 0.993 | D | 0.557 | 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.