Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29640 | 89143;89144;89145 | chr2:178554193;178554192;178554191 | chr2:179418920;179418919;179418918 |
| N2AB | 27999 | 84220;84221;84222 | chr2:178554193;178554192;178554191 | chr2:179418920;179418919;179418918 |
| N2A | 27072 | 81439;81440;81441 | chr2:178554193;178554192;178554191 | chr2:179418920;179418919;179418918 |
| N2B | 20575 | 61948;61949;61950 | chr2:178554193;178554192;178554191 | chr2:179418920;179418919;179418918 |
| Novex-1 | 20700 | 62323;62324;62325 | chr2:178554193;178554192;178554191 | chr2:179418920;179418919;179418918 |
| Novex-2 | 20767 | 62524;62525;62526 | chr2:178554193;178554192;178554191 | chr2:179418920;179418919;179418918 |
| 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/S | rs775145047  |
-2.558 | 0.995 | D | 0.705 | 0.468 | 0.257292322809 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.3E-06 | 0 |
| P/S | rs775145047 |
-2.558 | 0.995 | D | 0.705 | 0.468 | 0.257292322809 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/S | rs775145047 |
-2.558 | 0.995 | D | 0.705 | 0.468 | 0.257292322809 | gnomAD-4.0.0 | 7.47788E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.35145E-06 | 0 | 1.6128E-05 |
| P/T | None | None | 0.79 | D | 0.588 | 0.424 | 0.352262096564 | gnomAD-4.0.0 | 6.88427E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0231E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6586 | likely_pathogenic | 0.7295 | pathogenic | -2.044 | Highly Destabilizing | 0.984 | D | 0.703 | prob.neutral | N | 0.505032854 | None | None | N |
| P/C | 0.9459 | likely_pathogenic | 0.9599 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -2.687 | Highly Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| P/E | 0.9944 | likely_pathogenic | 0.9959 | pathogenic | -2.46 | Highly Destabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | N |
| P/F | 0.9962 | likely_pathogenic | 0.998 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/G | 0.9821 | likely_pathogenic | 0.9877 | pathogenic | -2.579 | Highly Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | N |
| P/H | 0.9945 | likely_pathogenic | 0.9963 | pathogenic | -2.322 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/I | 0.8129 | likely_pathogenic | 0.867 | pathogenic | -0.546 | Destabilizing | 0.998 | D | 0.827 | deleterious | None | None | None | None | N |
| P/K | 0.9968 | likely_pathogenic | 0.9974 | pathogenic | -1.553 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| P/L | 0.5633 | ambiguous | 0.6843 | pathogenic | -0.546 | Destabilizing | 0.998 | D | 0.795 | deleterious | N | 0.474332875 | None | None | N |
| P/M | 0.9331 | likely_pathogenic | 0.9488 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/N | 0.9976 | likely_pathogenic | 0.998 | pathogenic | -1.916 | Destabilizing | 0.998 | D | 0.776 | deleterious | None | None | None | None | N |
| P/Q | 0.9877 | likely_pathogenic | 0.9911 | pathogenic | -1.747 | Destabilizing | 0.999 | D | 0.793 | deleterious | D | 0.540280312 | None | None | N |
| P/R | 0.9904 | likely_pathogenic | 0.9938 | pathogenic | -1.473 | Destabilizing | 0.999 | D | 0.797 | deleterious | D | 0.540280312 | None | None | N |
| P/S | 0.9671 | likely_pathogenic | 0.9775 | pathogenic | -2.527 | Highly Destabilizing | 0.995 | D | 0.705 | prob.neutral | D | 0.528505933 | None | None | N |
| P/T | 0.8658 | likely_pathogenic | 0.8863 | pathogenic | -2.154 | Highly Destabilizing | 0.79 | D | 0.588 | neutral | D | 0.539773333 | None | None | N |
| P/V | 0.6494 | likely_pathogenic | 0.7269 | pathogenic | -1.019 | Destabilizing | 0.996 | D | 0.759 | deleterious | None | None | None | None | N |
| P/W | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/Y | 0.9984 | likely_pathogenic | 0.9992 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.884 | 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.