Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8264 | 25015;25016;25017 | chr2:178718216;178718215;178718214 | chr2:179582943;179582942;179582941 |
| N2AB | 7947 | 24064;24065;24066 | chr2:178718216;178718215;178718214 | chr2:179582943;179582942;179582941 |
| N2A | 7020 | 21283;21284;21285 | chr2:178718216;178718215;178718214 | chr2:179582943;179582942;179582941 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.818 | 0.638 | 0.74833783201 | gnomAD-4.0.0 | 1.63066E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.84496E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1235369035  |
0.033 | 1.0 | D | 0.865 | 0.647 | 0.905832655978 | gnomAD-2.1.1 | 8.38E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.42E-05 | None | 0 | 9.02E-06 | 0 |
| P/L | rs1235369035 |
0.033 | 1.0 | D | 0.865 | 0.647 | 0.905832655978 | gnomAD-4.0.0 | 4.14748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70866E-06 | 2.34775E-05 | 1.66706E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7427 | likely_pathogenic | 0.9062 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.651669623 | None | None | N |
| P/C | 0.9891 | likely_pathogenic | 0.9964 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/D | 0.9988 | likely_pathogenic | 0.9996 | pathogenic | -1.707 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/E | 0.9962 | likely_pathogenic | 0.9988 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/F | 0.999 | likely_pathogenic | 0.9998 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/G | 0.9887 | likely_pathogenic | 0.9956 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/H | 0.9963 | likely_pathogenic | 0.999 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/I | 0.9727 | likely_pathogenic | 0.9922 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/K | 0.997 | likely_pathogenic | 0.9991 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/L | 0.9327 | likely_pathogenic | 0.9746 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.652275035 | None | None | N |
| P/M | 0.9931 | likely_pathogenic | 0.998 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/N | 0.9978 | likely_pathogenic | 0.9993 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/Q | 0.9925 | likely_pathogenic | 0.9981 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.66893017 | None | None | N |
| P/R | 0.9902 | likely_pathogenic | 0.9967 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.66893017 | None | None | N |
| P/S | 0.9688 | likely_pathogenic | 0.991 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.643190254 | None | None | N |
| P/T | 0.9573 | likely_pathogenic | 0.99 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.66893017 | None | None | N |
| P/V | 0.9299 | likely_pathogenic | 0.9776 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9998 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.857 | 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.