Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16707 | 50344;50345;50346 | chr2:178612406;178612405;178612404 | chr2:179477133;179477132;179477131 |
| N2AB | 15066 | 45421;45422;45423 | chr2:178612406;178612405;178612404 | chr2:179477133;179477132;179477131 |
| N2A | 14139 | 42640;42641;42642 | chr2:178612406;178612405;178612404 | chr2:179477133;179477132;179477131 |
| N2B | 7642 | 23149;23150;23151 | chr2:178612406;178612405;178612404 | chr2:179477133;179477132;179477131 |
| Novex-1 | 7767 | 23524;23525;23526 | chr2:178612406;178612405;178612404 | chr2:179477133;179477132;179477131 |
| Novex-2 | 7834 | 23725;23726;23727 | chr2:178612406;178612405;178612404 | chr2:179477133;179477132;179477131 |
| 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 | rs1158553720  |
-0.557 | 0.999 | N | 0.657 | 0.223 | 0.256793551483 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 6.61376E-04 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1158553720 |
-0.557 | 0.999 | N | 0.657 | 0.223 | 0.256793551483 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.95313E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1158553720 |
-0.557 | 0.999 | N | 0.657 | 0.223 | 0.256793551483 | gnomAD-4.0.0 | 4.34139E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 8.97787E-05 | None | 0 | 0 | 2.54401E-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 | 0.6231 | likely_pathogenic | 0.7526 | pathogenic | -0.053 | Destabilizing | 0.992 | D | 0.631 | neutral | N | 0.476101367 | None | None | I |
| D/C | 0.9598 | likely_pathogenic | 0.9821 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| D/E | 0.2432 | likely_benign | 0.2706 | benign | -0.329 | Destabilizing | 0.619 | D | 0.199 | neutral | N | 0.462912819 | None | None | I |
| D/F | 0.936 | likely_pathogenic | 0.9733 | pathogenic | 0.315 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| D/G | 0.4942 | ambiguous | 0.6729 | pathogenic | -0.299 | Destabilizing | 0.996 | D | 0.649 | neutral | N | 0.481110344 | None | None | I |
| D/H | 0.8352 | likely_pathogenic | 0.9217 | pathogenic | 0.655 | Stabilizing | 1.0 | D | 0.759 | deleterious | N | 0.519745253 | None | None | I |
| D/I | 0.9032 | likely_pathogenic | 0.952 | pathogenic | 0.56 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| D/K | 0.8751 | likely_pathogenic | 0.9444 | pathogenic | 0.269 | Stabilizing | 0.998 | D | 0.714 | prob.delet. | None | None | None | None | I |
| D/L | 0.8589 | likely_pathogenic | 0.9314 | pathogenic | 0.56 | Stabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | I |
| D/M | 0.9421 | likely_pathogenic | 0.9701 | pathogenic | 0.392 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| D/N | 0.2951 | likely_benign | 0.3846 | ambiguous | -0.265 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.480046836 | None | None | I |
| D/P | 0.9813 | likely_pathogenic | 0.993 | pathogenic | 0.379 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| D/Q | 0.8065 | likely_pathogenic | 0.8839 | pathogenic | -0.166 | Destabilizing | 0.998 | D | 0.723 | prob.delet. | None | None | None | None | I |
| D/R | 0.9142 | likely_pathogenic | 0.9654 | pathogenic | 0.623 | Stabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | I |
| D/S | 0.4768 | ambiguous | 0.6108 | pathogenic | -0.371 | Destabilizing | 0.994 | D | 0.587 | neutral | None | None | None | None | I |
| D/T | 0.6977 | likely_pathogenic | 0.8025 | pathogenic | -0.161 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | I |
| D/V | 0.7599 | likely_pathogenic | 0.8648 | pathogenic | 0.379 | Stabilizing | 0.999 | D | 0.78 | deleterious | N | 0.476488463 | None | None | I |
| D/W | 0.9899 | likely_pathogenic | 0.9963 | pathogenic | 0.477 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| D/Y | 0.7305 | likely_pathogenic | 0.869 | pathogenic | 0.575 | Stabilizing | 1.0 | D | 0.786 | deleterious | D | 0.549783709 | 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.