Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28992 | 87199;87200;87201 | chr2:178558485;178558484;178558483 | chr2:179423212;179423211;179423210 |
| N2AB | 27351 | 82276;82277;82278 | chr2:178558485;178558484;178558483 | chr2:179423212;179423211;179423210 |
| N2A | 26424 | 79495;79496;79497 | chr2:178558485;178558484;178558483 | chr2:179423212;179423211;179423210 |
| N2B | 19927 | 60004;60005;60006 | chr2:178558485;178558484;178558483 | chr2:179423212;179423211;179423210 |
| Novex-1 | 20052 | 60379;60380;60381 | chr2:178558485;178558484;178558483 | chr2:179423212;179423211;179423210 |
| Novex-2 | 20119 | 60580;60581;60582 | chr2:178558485;178558484;178558483 | chr2:179423212;179423211;179423210 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs769162510  |
None | 0.999 | N | 0.716 | 0.471 | 0.81347465763 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | I | None | 0 | 2.23594E-05 | None | 0 | 0 | None | 0 | 0 | 8.99441E-07 | 0 | 0 |
| C/R | rs769162510 |
-0.782 | 1.0 | N | 0.769 | 0.519 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | I | None | 1.29149E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| C/R | rs769162510 |
-0.782 | 1.0 | N | 0.769 | 0.519 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/R | rs769162510 |
-0.782 | 1.0 | N | 0.769 | 0.519 | None | gnomAD-4.0.0 | 1.30135E-05 | None | None | None | None | I | None | 4.00395E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27137E-05 | 3.29381E-05 | 0 |
| C/Y | None | None | 1.0 | N | 0.745 | 0.33 | 0.71830766347 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79888E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4477 | ambiguous | 0.4252 | ambiguous | -1.507 | Destabilizing | 0.968 | D | 0.491 | neutral | None | None | None | None | I |
| C/D | 0.9133 | likely_pathogenic | 0.9093 | pathogenic | -0.231 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | I |
| C/E | 0.9095 | likely_pathogenic | 0.9096 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| C/F | 0.2444 | likely_benign | 0.2314 | benign | -0.956 | Destabilizing | 0.999 | D | 0.743 | deleterious | N | 0.463438612 | None | None | I |
| C/G | 0.3373 | likely_benign | 0.3147 | benign | -1.764 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | N | 0.478975654 | None | None | I |
| C/H | 0.6833 | likely_pathogenic | 0.6817 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| C/I | 0.3554 | ambiguous | 0.35 | ambiguous | -0.869 | Destabilizing | 0.992 | D | 0.521 | neutral | None | None | None | None | I |
| C/K | 0.8727 | likely_pathogenic | 0.8742 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| C/L | 0.4114 | ambiguous | 0.413 | ambiguous | -0.869 | Destabilizing | 0.982 | D | 0.539 | neutral | None | None | None | None | I |
| C/M | 0.554 | ambiguous | 0.5582 | ambiguous | 0.041 | Stabilizing | 0.999 | D | 0.73 | prob.delet. | None | None | None | None | I |
| C/N | 0.7526 | likely_pathogenic | 0.7367 | pathogenic | -0.71 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | I |
| C/P | 0.9599 | likely_pathogenic | 0.9579 | pathogenic | -1.056 | Destabilizing | 0.999 | D | 0.772 | deleterious | None | None | None | None | I |
| C/Q | 0.7758 | likely_pathogenic | 0.7769 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| C/R | 0.6362 | likely_pathogenic | 0.6458 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.480822078 | None | None | I |
| C/S | 0.4838 | ambiguous | 0.4573 | ambiguous | -1.261 | Destabilizing | 0.991 | D | 0.619 | neutral | N | 0.502778631 | None | None | I |
| C/T | 0.4903 | ambiguous | 0.4736 | ambiguous | -1.057 | Destabilizing | 0.986 | D | 0.571 | neutral | None | None | None | None | I |
| C/V | 0.2725 | likely_benign | 0.2688 | benign | -1.056 | Destabilizing | 0.57 | D | 0.345 | neutral | None | None | None | None | I |
| C/W | 0.5948 | likely_pathogenic | 0.5781 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.506487658 | None | None | I |
| C/Y | 0.3414 | ambiguous | 0.3308 | benign | -0.902 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.47550616 | 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.