Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26807 | 80644;80645;80646 | chr2:178565713;178565712;178565711 | chr2:179430440;179430439;179430438 |
| N2AB | 25166 | 75721;75722;75723 | chr2:178565713;178565712;178565711 | chr2:179430440;179430439;179430438 |
| N2A | 24239 | 72940;72941;72942 | chr2:178565713;178565712;178565711 | chr2:179430440;179430439;179430438 |
| N2B | 17742 | 53449;53450;53451 | chr2:178565713;178565712;178565711 | chr2:179430440;179430439;179430438 |
| Novex-1 | 17867 | 53824;53825;53826 | chr2:178565713;178565712;178565711 | chr2:179430440;179430439;179430438 |
| Novex-2 | 17934 | 54025;54026;54027 | chr2:178565713;178565712;178565711 | chr2:179430440;179430439;179430438 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | rs1575674850  |
None | 1.0 | D | 0.631 | 0.621 | 0.753238536273 | gnomAD-4.0.0 | 1.36855E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79912E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9217 | likely_pathogenic | 0.9306 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.493551644 | None | None | N |
| D/C | 0.9781 | likely_pathogenic | 0.9849 | pathogenic | 0.112 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| D/E | 0.9092 | likely_pathogenic | 0.9119 | pathogenic | -0.628 | Destabilizing | 0.998 | D | 0.431 | neutral | N | 0.495993953 | None | None | N |
| D/F | 0.9862 | likely_pathogenic | 0.9851 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| D/G | 0.8966 | likely_pathogenic | 0.8993 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.510872658 | None | None | N |
| D/H | 0.9507 | likely_pathogenic | 0.9516 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.51011219 | None | None | N |
| D/I | 0.9786 | likely_pathogenic | 0.9811 | pathogenic | 0.191 | Stabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| D/K | 0.9836 | likely_pathogenic | 0.9851 | pathogenic | 0.081 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/L | 0.9652 | likely_pathogenic | 0.9685 | pathogenic | 0.191 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| D/M | 0.9903 | likely_pathogenic | 0.9921 | pathogenic | 0.652 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| D/N | 0.5027 | ambiguous | 0.4718 | ambiguous | -0.152 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.477675888 | None | None | N |
| D/P | 0.983 | likely_pathogenic | 0.9894 | pathogenic | 0.026 | Stabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| D/Q | 0.9758 | likely_pathogenic | 0.9765 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| D/R | 0.9783 | likely_pathogenic | 0.9781 | pathogenic | -0.052 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| D/S | 0.6942 | likely_pathogenic | 0.6817 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| D/T | 0.8844 | likely_pathogenic | 0.8747 | pathogenic | -0.104 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| D/V | 0.9508 | likely_pathogenic | 0.9529 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.503021845 | None | None | N |
| D/W | 0.9968 | likely_pathogenic | 0.9975 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| D/Y | 0.9084 | likely_pathogenic | 0.9148 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.631 | neutral | D | 0.545106159 | 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.