Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22003 | 66232;66233;66234 | chr2:178582449;178582448;178582447 | chr2:179447176;179447175;179447174 |
| N2AB | 20362 | 61309;61310;61311 | chr2:178582449;178582448;178582447 | chr2:179447176;179447175;179447174 |
| N2A | 19435 | 58528;58529;58530 | chr2:178582449;178582448;178582447 | chr2:179447176;179447175;179447174 |
| N2B | 12938 | 39037;39038;39039 | chr2:178582449;178582448;178582447 | chr2:179447176;179447175;179447174 |
| Novex-1 | 13063 | 39412;39413;39414 | chr2:178582449;178582448;178582447 | chr2:179447176;179447175;179447174 |
| Novex-2 | 13130 | 39613;39614;39615 | chr2:178582449;178582448;178582447 | chr2:179447176;179447175;179447174 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1299666551  |
None | 1.0 | D | 0.794 | 0.633 | 0.803640472702 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/R | rs1299666551 |
None | 1.0 | D | 0.794 | 0.633 | 0.803640472702 | gnomAD-4.0.0 | 2.4801E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.3916E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.999 | likely_pathogenic | 0.9972 | pathogenic | -2.918 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| W/C | 0.9997 | likely_pathogenic | 0.999 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.53734057 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9992 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9994 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/F | 0.8525 | likely_pathogenic | 0.8031 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| W/G | 0.9961 | likely_pathogenic | 0.9904 | pathogenic | -3.116 | Highly Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.536580101 | None | None | N |
| W/H | 0.9983 | likely_pathogenic | 0.9964 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/I | 0.9983 | likely_pathogenic | 0.9964 | pathogenic | -2.211 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| W/L | 0.9943 | likely_pathogenic | 0.9877 | pathogenic | -2.211 | Highly Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.52319588 | None | None | N |
| W/M | 0.9988 | likely_pathogenic | 0.9971 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9992 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| W/P | 0.9992 | likely_pathogenic | 0.9977 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9993 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.547682917 | None | None | N |
| W/S | 0.9984 | likely_pathogenic | 0.995 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.529071683 | None | None | N |
| W/T | 0.9991 | likely_pathogenic | 0.9973 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/V | 0.9983 | likely_pathogenic | 0.9957 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| W/Y | 0.9653 | likely_pathogenic | 0.9461 | pathogenic | -1.688 | Destabilizing | 1.0 | D | 0.615 | neutral | 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.