Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24644 | 74155;74156;74157 | chr2:178572202;178572201;178572200 | chr2:179436929;179436928;179436927 |
| N2AB | 23003 | 69232;69233;69234 | chr2:178572202;178572201;178572200 | chr2:179436929;179436928;179436927 |
| N2A | 22076 | 66451;66452;66453 | chr2:178572202;178572201;178572200 | chr2:179436929;179436928;179436927 |
| N2B | 15579 | 46960;46961;46962 | chr2:178572202;178572201;178572200 | chr2:179436929;179436928;179436927 |
| Novex-1 | 15704 | 47335;47336;47337 | chr2:178572202;178572201;178572200 | chr2:179436929;179436928;179436927 |
| Novex-2 | 15771 | 47536;47537;47538 | chr2:178572202;178572201;178572200 | chr2:179436929;179436928;179436927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1553606142  |
None | 1.0 | N | 0.863 | 0.605 | 0.611077749297 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1553606142 |
None | 1.0 | N | 0.863 | 0.605 | 0.611077749297 | gnomAD-4.0.0 | 2.03002E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40993E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9817 | likely_pathogenic | 0.9717 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.522047472 | None | None | N |
| G/C | 0.9954 | likely_pathogenic | 0.993 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/D | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/E | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.868 | deleterious | N | 0.514792543 | None | None | N |
| G/F | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/H | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/I | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/K | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/L | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/M | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/N | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Q | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.9963 | likely_pathogenic | 0.9953 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.491421596 | None | None | N |
| G/S | 0.9764 | likely_pathogenic | 0.9623 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/T | 0.9974 | likely_pathogenic | 0.9959 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/V | 0.9986 | likely_pathogenic | 0.9979 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.52306143 | None | None | N |
| G/W | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Y | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.817 | 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.