Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21575 | 64948;64949;64950 | chr2:178584918;178584917;178584916 | chr2:179449645;179449644;179449643 |
| N2AB | 19934 | 60025;60026;60027 | chr2:178584918;178584917;178584916 | chr2:179449645;179449644;179449643 |
| N2A | 19007 | 57244;57245;57246 | chr2:178584918;178584917;178584916 | chr2:179449645;179449644;179449643 |
| N2B | 12510 | 37753;37754;37755 | chr2:178584918;178584917;178584916 | chr2:179449645;179449644;179449643 |
| Novex-1 | 12635 | 38128;38129;38130 | chr2:178584918;178584917;178584916 | chr2:179449645;179449644;179449643 |
| Novex-2 | 12702 | 38329;38330;38331 | chr2:178584918;178584917;178584916 | chr2:179449645;179449644;179449643 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1410308363  |
0.215 | 1.0 | N | 0.539 | 0.35 | 0.239305524855 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| D/N | rs1410308363 |
0.215 | 1.0 | N | 0.539 | 0.35 | 0.239305524855 | gnomAD-4.0.0 | 4.7908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29742E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3841 | ambiguous | 0.4771 | ambiguous | -0.527 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.518558947 | None | None | N |
| D/C | 0.8617 | likely_pathogenic | 0.8837 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| D/E | 0.2478 | likely_benign | 0.2704 | benign | -0.549 | Destabilizing | 1.0 | D | 0.44 | neutral | N | 0.482214144 | None | None | N |
| D/F | 0.802 | likely_pathogenic | 0.8579 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| D/G | 0.3895 | ambiguous | 0.4829 | ambiguous | -0.769 | Destabilizing | 1.0 | D | 0.624 | neutral | N | 0.470661223 | None | None | N |
| D/H | 0.5468 | ambiguous | 0.6592 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.478409904 | None | None | N |
| D/I | 0.7071 | likely_pathogenic | 0.7811 | pathogenic | 0.081 | Stabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| D/K | 0.6766 | likely_pathogenic | 0.7673 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| D/L | 0.6587 | likely_pathogenic | 0.7209 | pathogenic | 0.081 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| D/M | 0.7947 | likely_pathogenic | 0.8401 | pathogenic | 0.473 | Stabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| D/N | 0.1559 | likely_benign | 0.1973 | benign | -0.27 | Destabilizing | 1.0 | D | 0.539 | neutral | N | 0.46935949 | None | None | N |
| D/P | 0.9614 | likely_pathogenic | 0.9763 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| D/Q | 0.5503 | ambiguous | 0.6436 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| D/R | 0.715 | likely_pathogenic | 0.805 | pathogenic | 0.077 | Stabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| D/S | 0.2185 | likely_benign | 0.2794 | benign | -0.426 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| D/T | 0.3748 | ambiguous | 0.4539 | ambiguous | -0.238 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| D/V | 0.4781 | ambiguous | 0.5623 | ambiguous | -0.099 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.503351014 | None | None | N |
| D/W | 0.955 | likely_pathogenic | 0.9697 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/Y | 0.4281 | ambiguous | 0.5279 | ambiguous | -0.294 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.503097524 | 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.