Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21660 | 65203;65204;65205 | chr2:178584573;178584572;178584571 | chr2:179449300;179449299;179449298 |
| N2AB | 20019 | 60280;60281;60282 | chr2:178584573;178584572;178584571 | chr2:179449300;179449299;179449298 |
| N2A | 19092 | 57499;57500;57501 | chr2:178584573;178584572;178584571 | chr2:179449300;179449299;179449298 |
| N2B | 12595 | 38008;38009;38010 | chr2:178584573;178584572;178584571 | chr2:179449300;179449299;179449298 |
| Novex-1 | 12720 | 38383;38384;38385 | chr2:178584573;178584572;178584571 | chr2:179449300;179449299;179449298 |
| Novex-2 | 12787 | 38584;38585;38586 | chr2:178584573;178584572;178584571 | chr2:179449300;179449299;179449298 |
| 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/H | rs1037246417  |
-1.012 | 1.0 | D | 0.751 | 0.549 | 0.601095518603 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/H | rs1037246417 |
-1.012 | 1.0 | D | 0.751 | 0.549 | 0.601095518603 | gnomAD-4.0.0 | 4.79629E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30305E-06 | 0 | 0 |
| P/T | rs2048516567 |
None | 1.0 | D | 0.756 | 0.525 | 0.528358622244 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs2048516567 |
None | 1.0 | D | 0.756 | 0.525 | 0.528358622244 | gnomAD-4.0.0 | 6.57964E-06 | None | None | None | None | N | None | 2.41628E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.8332 | likely_pathogenic | 0.8859 | pathogenic | -1.421 | Destabilizing | 0.999 | D | 0.809 | deleterious | D | 0.533365595 | None | None | N |
| P/C | 0.9885 | likely_pathogenic | 0.9898 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.266 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/E | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -3.207 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/G | 0.9911 | likely_pathogenic | 0.9925 | pathogenic | -1.714 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/H | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.545989348 | None | None | N |
| P/I | 0.9917 | likely_pathogenic | 0.9927 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| P/K | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/L | 0.9659 | likely_pathogenic | 0.9705 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.543454453 | None | None | N |
| P/M | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/Q | 0.9965 | likely_pathogenic | 0.9964 | pathogenic | -2.065 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/R | 0.9939 | likely_pathogenic | 0.9932 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.54522888 | None | None | N |
| P/S | 0.9838 | likely_pathogenic | 0.9866 | pathogenic | -2.193 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.533619085 | None | None | N |
| P/T | 0.9822 | likely_pathogenic | 0.9843 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.52200929 | None | None | N |
| P/V | 0.9741 | likely_pathogenic | 0.9787 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.739 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.814 | 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.