Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1327 | 4204;4205;4206 | chr2:178779103;178779102;178779101 | chr2:179643830;179643829;179643828 |
| N2AB | 1327 | 4204;4205;4206 | chr2:178779103;178779102;178779101 | chr2:179643830;179643829;179643828 |
| N2A | 1327 | 4204;4205;4206 | chr2:178779103;178779102;178779101 | chr2:179643830;179643829;179643828 |
| N2B | 1281 | 4066;4067;4068 | chr2:178779103;178779102;178779101 | chr2:179643830;179643829;179643828 |
| Novex-1 | 1281 | 4066;4067;4068 | chr2:178779103;178779102;178779101 | chr2:179643830;179643829;179643828 |
| Novex-2 | 1281 | 4066;4067;4068 | chr2:178779103;178779102;178779101 | chr2:179643830;179643829;179643828 |
| Novex-3 | 1327 | 4204;4205;4206 | chr2:178779103;178779102;178779101 | chr2:179643830;179643829;179643828 |
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/H | None | None | 1.0 | D | 0.639 | 0.391 | 0.302459207581 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85708E-06 | 0 | 0 |
| D/N | rs1317990922  |
-0.678 | 0.884 | N | 0.36 | 0.261 | 0.130388298395 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1317990922 |
-0.678 | 0.884 | N | 0.36 | 0.261 | 0.130388298395 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.3101E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1317990922 |
-0.678 | 0.884 | N | 0.36 | 0.261 | 0.130388298395 | gnomAD-4.0.0 | 3.84313E-06 | None | None | None | None | N | None | 0 | 5.08664E-05 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9642 | likely_pathogenic | 0.9747 | pathogenic | -0.53 | Destabilizing | 0.999 | D | 0.641 | neutral | D | 0.526040496 | None | None | N |
| D/C | 0.9958 | likely_pathogenic | 0.9969 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| D/E | 0.942 | likely_pathogenic | 0.9569 | pathogenic | -0.298 | Destabilizing | 0.996 | D | 0.445 | neutral | N | 0.452168747 | None | None | N |
| D/F | 0.9965 | likely_pathogenic | 0.9975 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| D/G | 0.8722 | likely_pathogenic | 0.8885 | pathogenic | -0.794 | Destabilizing | 0.996 | D | 0.629 | neutral | N | 0.444383933 | None | None | N |
| D/H | 0.9891 | likely_pathogenic | 0.9916 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.639 | neutral | D | 0.615283944 | None | None | N |
| D/I | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | 0.146 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| D/K | 0.9954 | likely_pathogenic | 0.9963 | pathogenic | 0.08 | Stabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| D/L | 0.992 | likely_pathogenic | 0.994 | pathogenic | 0.146 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| D/M | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | 0.299 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| D/N | 0.5952 | likely_pathogenic | 0.629 | pathogenic | -0.461 | Destabilizing | 0.884 | D | 0.36 | neutral | N | 0.437655258 | None | None | N |
| D/P | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| D/Q | 0.9917 | likely_pathogenic | 0.9938 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| D/R | 0.9935 | likely_pathogenic | 0.9949 | pathogenic | 0.371 | Stabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| D/S | 0.8959 | likely_pathogenic | 0.9187 | pathogenic | -0.595 | Destabilizing | 0.997 | D | 0.609 | neutral | None | None | None | None | N |
| D/T | 0.9882 | likely_pathogenic | 0.9914 | pathogenic | -0.37 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| D/V | 0.9892 | likely_pathogenic | 0.9925 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.67 | neutral | D | 0.568580705 | None | None | N |
| D/W | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | 0.187 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| D/Y | 0.9664 | likely_pathogenic | 0.9729 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.651 | neutral | D | 0.615427103 | 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.