Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4022 | 12289;12290;12291 | chr2:178741169;178741168;178741167 | chr2:179605896;179605895;179605894 |
| N2AB | 3705 | 11338;11339;11340 | chr2:178741169;178741168;178741167 | chr2:179605896;179605895;179605894 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3659 | 11200;11201;11202 | chr2:178741169;178741168;178741167 | chr2:179605896;179605895;179605894 |
| Novex-1 | 3784 | 11575;11576;11577 | chr2:178741169;178741168;178741167 | chr2:179605896;179605895;179605894 |
| Novex-2 | 3851 | 11776;11777;11778 | chr2:178741169;178741168;178741167 | chr2:179605896;179605895;179605894 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/W | rs931245340  |
None | 0.915 | D | 0.726 | 0.382 | None | gnomAD-4.0.0 | 3.42177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.20472E-04 | 1.79887E-06 | 0 | 0 |
| C/Y | rs2082415134 |
None | 0.484 | D | 0.736 | 0.242 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| C/Y | rs2082415134 |
None | 0.484 | D | 0.736 | 0.242 | None | gnomAD-4.0.0 | 6.57281E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.2644 | likely_benign | 0.2913 | benign | -1.675 | Destabilizing | 0.035 | N | 0.551 | neutral | None | None | None | None | N |
| C/D | 0.6479 | likely_pathogenic | 0.6782 | pathogenic | 0.102 | Stabilizing | 0.001 | N | 0.582 | neutral | None | None | None | None | N |
| C/E | 0.7939 | likely_pathogenic | 0.7933 | pathogenic | 0.209 | Stabilizing | 0.081 | N | 0.75 | deleterious | None | None | None | None | N |
| C/F | 0.282 | likely_benign | 0.2701 | benign | -0.992 | Destabilizing | 0.484 | N | 0.761 | deleterious | D | 0.633461606 | None | None | N |
| C/G | 0.1894 | likely_benign | 0.2099 | benign | -1.984 | Destabilizing | 0.062 | N | 0.723 | prob.delet. | D | 0.530789164 | None | None | N |
| C/H | 0.544 | ambiguous | 0.5523 | ambiguous | -1.83 | Destabilizing | 0.824 | D | 0.755 | deleterious | None | None | None | None | N |
| C/I | 0.5271 | ambiguous | 0.5366 | ambiguous | -0.88 | Destabilizing | 0.38 | N | 0.781 | deleterious | None | None | None | None | N |
| C/K | 0.776 | likely_pathogenic | 0.7765 | pathogenic | -0.677 | Destabilizing | 0.081 | N | 0.788 | deleterious | None | None | None | None | N |
| C/L | 0.5147 | ambiguous | 0.4992 | ambiguous | -0.88 | Destabilizing | 0.149 | N | 0.697 | prob.neutral | None | None | None | None | N |
| C/M | 0.6795 | likely_pathogenic | 0.6816 | pathogenic | 0.026 | Stabilizing | 0.935 | D | 0.719 | prob.delet. | None | None | None | None | N |
| C/N | 0.5274 | ambiguous | 0.5646 | pathogenic | -0.676 | Destabilizing | 0.081 | N | 0.79 | deleterious | None | None | None | None | N |
| C/P | 0.9779 | likely_pathogenic | 0.9669 | pathogenic | -1.12 | Destabilizing | 0.38 | N | 0.793 | deleterious | None | None | None | None | N |
| C/Q | 0.6333 | likely_pathogenic | 0.6349 | pathogenic | -0.541 | Destabilizing | 0.38 | N | 0.799 | deleterious | None | None | None | None | N |
| C/R | 0.412 | ambiguous | 0.4092 | ambiguous | -0.585 | Destabilizing | 0.317 | N | 0.799 | deleterious | D | 0.529001762 | None | None | N |
| C/S | 0.1705 | likely_benign | 0.2027 | benign | -1.278 | Destabilizing | None | N | 0.407 | neutral | N | 0.455137968 | None | None | N |
| C/T | 0.3601 | ambiguous | 0.3875 | ambiguous | -0.979 | Destabilizing | 0.081 | N | 0.694 | prob.neutral | None | None | None | None | N |
| C/V | 0.4158 | ambiguous | 0.4324 | ambiguous | -1.12 | Destabilizing | 0.149 | N | 0.717 | prob.delet. | None | None | None | None | N |
| C/W | 0.6187 | likely_pathogenic | 0.5877 | pathogenic | -0.942 | Destabilizing | 0.915 | D | 0.726 | prob.delet. | D | 0.6056504 | None | None | N |
| C/Y | 0.3597 | ambiguous | 0.3471 | ambiguous | -0.94 | Destabilizing | 0.484 | N | 0.736 | prob.delet. | D | 0.576509501 | 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.