Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5202 | 15829;15830;15831 | chr2:178733785;178733784;178733783 | chr2:179598512;179598511;179598510 |
| N2AB | 4885 | 14878;14879;14880 | chr2:178733785;178733784;178733783 | chr2:179598512;179598511;179598510 |
| N2A | 3958 | 12097;12098;12099 | chr2:178733785;178733784;178733783 | chr2:179598512;179598511;179598510 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.042 | N | 0.512 | 0.072 | 0.26775503 | gnomAD-4.0.0 | 1.56042E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70625E-05 | 0 | 0 |
| M/K | None | -0.669 | 0.301 | N | 0.525 | 0.297 | 0.4676694 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.28E-05 | 0 | 0 |
| M/K | None | -0.669 | 0.301 | N | 0.525 | 0.297 | 0.4676694 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| M/K | None | -0.669 | 0.301 | N | 0.525 | 0.297 | 0.4676694 | gnomAD-4.0.0 | 3.7183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.37324E-05 | 0 | 0 | 0 | 0 |
| M/R | rs764755768  |
None | 0.602 | N | 0.585 | 0.326 | 0.5005511 | gnomAD-4.0.0 | 6.84205E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9948E-07 | 0 | 0 |
| M/T | rs764755768 |
-1.081 | 0.003 | N | 0.287 | 0.235 | 0.59467906 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| M/T | rs764755768 |
-1.081 | 0.003 | N | 0.287 | 0.235 | 0.59467906 | gnomAD-4.0.0 | 6.15785E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29636E-06 | 1.15937E-05 | 1.65662E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.596 | likely_pathogenic | 0.6164 | pathogenic | -1.903 | Destabilizing | 0.104 | N | 0.503 | neutral | None | None | None | None | N |
| M/C | 0.7571 | likely_pathogenic | 0.779 | pathogenic | -1.674 | Destabilizing | 0.958 | D | 0.565 | neutral | None | None | None | None | N |
| M/D | 0.9287 | likely_pathogenic | 0.9346 | pathogenic | -0.836 | Destabilizing | 0.667 | D | 0.623 | neutral | None | None | None | None | N |
| M/E | 0.5322 | ambiguous | 0.5475 | ambiguous | -0.723 | Destabilizing | 0.364 | N | 0.571 | neutral | None | None | None | None | N |
| M/F | 0.2778 | likely_benign | 0.2654 | benign | -0.658 | Destabilizing | 0.001 | N | 0.242 | neutral | None | None | None | None | N |
| M/G | 0.6949 | likely_pathogenic | 0.7208 | pathogenic | -2.307 | Highly Destabilizing | 0.364 | N | 0.599 | neutral | None | None | None | None | N |
| M/H | 0.4886 | ambiguous | 0.5096 | ambiguous | -1.553 | Destabilizing | 0.958 | D | 0.573 | neutral | None | None | None | None | N |
| M/I | 0.3741 | ambiguous | 0.3832 | ambiguous | -0.808 | Destabilizing | 0.042 | N | 0.512 | neutral | N | 0.44575188 | None | None | N |
| M/K | 0.1443 | likely_benign | 0.1548 | benign | -0.74 | Destabilizing | 0.301 | N | 0.525 | neutral | N | 0.43629616 | None | None | N |
| M/L | 0.1072 | likely_benign | 0.1108 | benign | -0.808 | Destabilizing | None | N | 0.187 | neutral | N | 0.3812591 | None | None | N |
| M/N | 0.6167 | likely_pathogenic | 0.6465 | pathogenic | -0.77 | Destabilizing | 0.667 | D | 0.585 | neutral | None | None | None | None | N |
| M/P | 0.9896 | likely_pathogenic | 0.9912 | pathogenic | -1.147 | Destabilizing | 0.859 | D | 0.586 | neutral | None | None | None | None | N |
| M/Q | 0.1978 | likely_benign | 0.2177 | benign | -0.695 | Destabilizing | 0.859 | D | 0.575 | neutral | None | None | None | None | N |
| M/R | 0.156 | likely_benign | 0.1677 | benign | -0.538 | Destabilizing | 0.602 | D | 0.585 | neutral | N | 0.4458612 | None | None | N |
| M/S | 0.5385 | ambiguous | 0.5717 | pathogenic | -1.462 | Destabilizing | 0.124 | N | 0.534 | neutral | None | None | None | None | N |
| M/T | 0.3584 | ambiguous | 0.3624 | ambiguous | -1.223 | Destabilizing | 0.003 | N | 0.287 | neutral | N | 0.4333027 | None | None | N |
| M/V | 0.1494 | likely_benign | 0.1522 | benign | -1.147 | Destabilizing | 0.042 | N | 0.433 | neutral | N | 0.44530332 | None | None | N |
| M/W | 0.521 | ambiguous | 0.5155 | ambiguous | -0.724 | Destabilizing | 0.958 | D | 0.561 | neutral | None | None | None | None | N |
| M/Y | 0.4403 | ambiguous | 0.4606 | ambiguous | -0.713 | Destabilizing | 0.124 | N | 0.577 | 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.