Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1381 | 4366;4367;4368 | chr2:178778941;178778940;178778939 | chr2:179643668;179643667;179643666 |
| N2AB | 1381 | 4366;4367;4368 | chr2:178778941;178778940;178778939 | chr2:179643668;179643667;179643666 |
| N2A | 1381 | 4366;4367;4368 | chr2:178778941;178778940;178778939 | chr2:179643668;179643667;179643666 |
| N2B | 1335 | 4228;4229;4230 | chr2:178778941;178778940;178778939 | chr2:179643668;179643667;179643666 |
| Novex-1 | 1335 | 4228;4229;4230 | chr2:178778941;178778940;178778939 | chr2:179643668;179643667;179643666 |
| Novex-2 | 1335 | 4228;4229;4230 | chr2:178778941;178778940;178778939 | chr2:179643668;179643667;179643666 |
| Novex-3 | 1381 | 4366;4367;4368 | chr2:178778941;178778940;178778939 | chr2:179643668;179643667;179643666 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs794729252  |
-1.865 | 0.999 | D | 0.515 | 0.663 | 0.660361313963 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs794729252 |
-1.865 | 0.999 | D | 0.515 | 0.663 | 0.660361313963 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs794729252 |
-1.865 | 0.999 | D | 0.515 | 0.663 | 0.660361313963 | gnomAD-4.0.0 | 3.09806E-06 | None | None | None | None | N | None | 0 | 3.33333E-05 | None | 0 | 0 | None | 0 | 0 | 2.54253E-06 | 0 | 0 |
| V/L | None | None | 0.997 | D | 0.53 | 0.496 | 0.483596354421 | gnomAD-4.0.0 | 6.84146E-07 | None | None | None | None | N | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1003675872 |
-0.791 | 1.0 | D | 0.722 | 0.514 | 0.522822360876 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| V/M | rs1003675872 |
-0.791 | 1.0 | D | 0.722 | 0.514 | 0.522822360876 | gnomAD-4.0.0 | 3.42073E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49679E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8527 | likely_pathogenic | 0.9005 | pathogenic | -2.027 | Highly Destabilizing | 0.999 | D | 0.515 | neutral | D | 0.708573856 | None | None | N |
| V/C | 0.9744 | likely_pathogenic | 0.977 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| V/D | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -2.506 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/E | 0.9887 | likely_pathogenic | 0.99 | pathogenic | -2.395 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.747580215 | None | None | N |
| V/F | 0.8989 | likely_pathogenic | 0.9322 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/G | 0.9491 | likely_pathogenic | 0.9571 | pathogenic | -2.442 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.747580215 | None | None | N |
| V/H | 0.9965 | likely_pathogenic | 0.9975 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/I | 0.1218 | likely_benign | 0.1267 | benign | -0.914 | Destabilizing | 0.998 | D | 0.452 | neutral | None | None | None | None | N |
| V/K | 0.9837 | likely_pathogenic | 0.9867 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| V/L | 0.7235 | likely_pathogenic | 0.77 | pathogenic | -0.914 | Destabilizing | 0.997 | D | 0.53 | neutral | D | 0.615880828 | None | None | N |
| V/M | 0.7842 | likely_pathogenic | 0.8191 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.687741374 | None | None | N |
| V/N | 0.9903 | likely_pathogenic | 0.992 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/P | 0.9877 | likely_pathogenic | 0.9909 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| V/Q | 0.9846 | likely_pathogenic | 0.9881 | pathogenic | -1.831 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| V/R | 0.966 | likely_pathogenic | 0.9731 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| V/S | 0.9581 | likely_pathogenic | 0.9629 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| V/T | 0.824 | likely_pathogenic | 0.8297 | pathogenic | -2.115 | Highly Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| V/W | 0.9974 | likely_pathogenic | 0.9982 | pathogenic | -1.646 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| V/Y | 0.9914 | likely_pathogenic | 0.9946 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.756 | 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.