Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21382 | 64369;64370;64371 | chr2:178586757;178586756;178586755 | chr2:179451484;179451483;179451482 |
| N2AB | 19741 | 59446;59447;59448 | chr2:178586757;178586756;178586755 | chr2:179451484;179451483;179451482 |
| N2A | 18814 | 56665;56666;56667 | chr2:178586757;178586756;178586755 | chr2:179451484;179451483;179451482 |
| N2B | 12317 | 37174;37175;37176 | chr2:178586757;178586756;178586755 | chr2:179451484;179451483;179451482 |
| Novex-1 | 12442 | 37549;37550;37551 | chr2:178586757;178586756;178586755 | chr2:179451484;179451483;179451482 |
| Novex-2 | 12509 | 37750;37751;37752 | chr2:178586757;178586756;178586755 | chr2:179451484;179451483;179451482 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | rs759348008  |
0.088 | 0.998 | N | 0.783 | 0.411 | 0.768050980893 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| S/I | rs759348008 |
0.088 | 0.998 | N | 0.783 | 0.411 | 0.768050980893 | gnomAD-4.0.0 | 1.59289E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88246E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1702 | likely_benign | 0.1482 | benign | -0.396 | Destabilizing | 0.611 | D | 0.228 | neutral | None | None | None | None | N |
| S/C | 0.2029 | likely_benign | 0.1723 | benign | -0.778 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.496930049 | None | None | N |
| S/D | 0.8798 | likely_pathogenic | 0.8225 | pathogenic | -1.817 | Destabilizing | 0.996 | D | 0.513 | neutral | None | None | None | None | N |
| S/E | 0.8451 | likely_pathogenic | 0.7613 | pathogenic | -1.77 | Destabilizing | 0.996 | D | 0.481 | neutral | None | None | None | None | N |
| S/F | 0.4745 | ambiguous | 0.4219 | ambiguous | -0.783 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| S/G | 0.2474 | likely_benign | 0.2287 | benign | -0.634 | Destabilizing | 0.989 | D | 0.429 | neutral | N | 0.494181344 | None | None | N |
| S/H | 0.5626 | ambiguous | 0.4863 | ambiguous | -1.208 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| S/I | 0.545 | ambiguous | 0.4896 | ambiguous | 0.133 | Stabilizing | 0.998 | D | 0.783 | deleterious | N | 0.519553754 | None | None | N |
| S/K | 0.9052 | likely_pathogenic | 0.8432 | pathogenic | -0.612 | Destabilizing | 0.996 | D | 0.478 | neutral | None | None | None | None | N |
| S/L | 0.2651 | likely_benign | 0.2366 | benign | 0.133 | Stabilizing | 0.992 | D | 0.649 | neutral | None | None | None | None | N |
| S/M | 0.3311 | likely_benign | 0.3073 | benign | 0.345 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| S/N | 0.449 | ambiguous | 0.3969 | ambiguous | -1.071 | Destabilizing | 0.999 | D | 0.556 | neutral | N | 0.498207042 | None | None | N |
| S/P | 0.9961 | likely_pathogenic | 0.9946 | pathogenic | -0.011 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/Q | 0.7282 | likely_pathogenic | 0.6598 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| S/R | 0.8543 | likely_pathogenic | 0.7836 | pathogenic | -0.505 | Destabilizing | 0.998 | D | 0.76 | deleterious | N | 0.501334141 | None | None | N |
| S/T | 0.0861 | likely_benign | 0.0804 | benign | -0.773 | Destabilizing | 0.989 | D | 0.422 | neutral | N | 0.509366247 | None | None | N |
| S/V | 0.4641 | ambiguous | 0.4141 | ambiguous | -0.011 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| S/W | 0.6837 | likely_pathogenic | 0.6423 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| S/Y | 0.4147 | ambiguous | 0.3593 | ambiguous | -0.525 | Destabilizing | 1.0 | D | 0.785 | deleterious | 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.