Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6933 | 21022;21023;21024 | chr2:178725407;178725406;178725405 | chr2:179590134;179590133;179590132 |
| N2AB | 6616 | 20071;20072;20073 | chr2:178725407;178725406;178725405 | chr2:179590134;179590133;179590132 |
| N2A | 5689 | 17290;17291;17292 | chr2:178725407;178725406;178725405 | chr2:179590134;179590133;179590132 |
| 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/A | rs200118743  |
0.21 | 0.001 | N | 0.295 | 0.218 | None | gnomAD-2.1.1 | 6.08512E-04 | None | None | None | None | I | None | 2.09556E-04 | 3.47786E-04 | None | 0 | 0 | None | 0 | None | 7.43986E-04 | 1.03358E-03 | 2.92398E-04 |
| G/A | rs200118743 |
0.21 | 0.001 | N | 0.295 | 0.218 | None | gnomAD-3.1.2 | 6.04452E-04 | None | None | None | None | I | None | 1.44718E-04 | 1.96438E-04 | 0 | 0 | 0 | None | 7.52445E-04 | 0 | 1.08792E-03 | 0 | 4.78469E-04 |
| G/A | rs200118743 |
0.21 | 0.001 | N | 0.295 | 0.218 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 3E-03 | None | None | None | 0 | None |
| G/A | rs200118743 |
0.21 | 0.001 | N | 0.295 | 0.218 | None | gnomAD-4.0.0 | 1.2351E-03 | None | None | None | None | I | None | 1.46859E-04 | 4.38227E-04 | None | 0 | 0 | None | 7.72481E-04 | 0 | 1.56577E-03 | 0 | 9.02382E-04 |
| G/V | None | None | 0.379 | N | 0.548 | 0.243 | 0.548865971634 | gnomAD-4.0.0 | 6.8928E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0428E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.067 | likely_benign | 0.0642 | benign | -0.294 | Destabilizing | 0.001 | N | 0.295 | neutral | N | 0.280358082 | None | None | I |
| G/C | 0.1861 | likely_benign | 0.2038 | benign | -0.969 | Destabilizing | 0.97 | D | 0.628 | neutral | N | 0.469144139 | None | None | I |
| G/D | 0.5797 | likely_pathogenic | 0.6581 | pathogenic | -0.791 | Destabilizing | 0.549 | D | 0.401 | neutral | N | 0.450289019 | None | None | I |
| G/E | 0.4788 | ambiguous | 0.5577 | ambiguous | -0.953 | Destabilizing | 0.617 | D | 0.519 | neutral | None | None | None | None | I |
| G/F | 0.5837 | likely_pathogenic | 0.6126 | pathogenic | -1.09 | Destabilizing | 0.92 | D | 0.633 | neutral | None | None | None | None | I |
| G/H | 0.5933 | likely_pathogenic | 0.666 | pathogenic | -0.359 | Destabilizing | 0.992 | D | 0.61 | neutral | None | None | None | None | I |
| G/I | 0.2816 | likely_benign | 0.2947 | benign | -0.565 | Destabilizing | 0.85 | D | 0.605 | neutral | None | None | None | None | I |
| G/K | 0.7131 | likely_pathogenic | 0.7772 | pathogenic | -0.733 | Destabilizing | 0.617 | D | 0.517 | neutral | None | None | None | None | I |
| G/L | 0.4233 | ambiguous | 0.4766 | ambiguous | -0.565 | Destabilizing | 0.447 | N | 0.563 | neutral | None | None | None | None | I |
| G/M | 0.4632 | ambiguous | 0.5253 | ambiguous | -0.669 | Destabilizing | 0.992 | D | 0.624 | neutral | None | None | None | None | I |
| G/N | 0.52 | ambiguous | 0.572 | pathogenic | -0.416 | Destabilizing | 0.85 | D | 0.355 | neutral | None | None | None | None | I |
| G/P | 0.9648 | likely_pathogenic | 0.9654 | pathogenic | -0.451 | Destabilizing | 0.92 | D | 0.563 | neutral | None | None | None | None | I |
| G/Q | 0.536 | ambiguous | 0.6023 | pathogenic | -0.712 | Destabilizing | 0.92 | D | 0.601 | neutral | None | None | None | None | I |
| G/R | 0.4946 | ambiguous | 0.5505 | ambiguous | -0.268 | Destabilizing | 0.81 | D | 0.579 | neutral | N | 0.468797422 | None | None | I |
| G/S | 0.0965 | likely_benign | 0.0982 | benign | -0.532 | Destabilizing | 0.045 | N | 0.315 | neutral | N | 0.396299818 | None | None | I |
| G/T | 0.1855 | likely_benign | 0.2088 | benign | -0.637 | Destabilizing | 0.447 | N | 0.509 | neutral | None | None | None | None | I |
| G/V | 0.1658 | likely_benign | 0.1682 | benign | -0.451 | Destabilizing | 0.379 | N | 0.548 | neutral | N | 0.382791803 | None | None | I |
| G/W | 0.5193 | ambiguous | 0.588 | pathogenic | -1.174 | Destabilizing | 0.992 | D | 0.659 | neutral | None | None | None | None | I |
| G/Y | 0.513 | ambiguous | 0.5539 | ambiguous | -0.875 | Destabilizing | 0.972 | D | 0.633 | neutral | 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.