Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16978 | 51157;51158;51159 | chr2:178611197;178611196;178611195 | chr2:179475924;179475923;179475922 |
| N2AB | 15337 | 46234;46235;46236 | chr2:178611197;178611196;178611195 | chr2:179475924;179475923;179475922 |
| N2A | 14410 | 43453;43454;43455 | chr2:178611197;178611196;178611195 | chr2:179475924;179475923;179475922 |
| N2B | 7913 | 23962;23963;23964 | chr2:178611197;178611196;178611195 | chr2:179475924;179475923;179475922 |
| Novex-1 | 8038 | 24337;24338;24339 | chr2:178611197;178611196;178611195 | chr2:179475924;179475923;179475922 |
| Novex-2 | 8105 | 24538;24539;24540 | chr2:178611197;178611196;178611195 | chr2:179475924;179475923;179475922 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | rs1173795392  |
-1.915 | 1.0 | D | 0.869 | 0.489 | 0.796794439838 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| F/C | rs1173795392 |
-1.915 | 1.0 | D | 0.869 | 0.489 | 0.796794439838 | gnomAD-4.0.0 | 1.59343E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86164E-06 | 0 | 0 |
| F/L | rs1417308681 |
None | 0.999 | N | 0.617 | 0.558 | 0.448498829774 | 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 |
| F/L | rs1417308681 |
None | 0.999 | N | 0.617 | 0.558 | 0.448498829774 | gnomAD-4.0.0 | 3.84847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18752E-06 | 0 | 0 |
| F/Y | rs1173795392 |
-1.329 | 0.999 | N | 0.57 | 0.286 | 0.558264529485 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| F/Y | rs1173795392 |
-1.329 | 0.999 | N | 0.57 | 0.286 | 0.558264529485 | gnomAD-4.0.0 | 1.59343E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78909E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9426 | likely_pathogenic | 0.9544 | pathogenic | -2.792 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| F/C | 0.6074 | likely_pathogenic | 0.6926 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.591460375 | None | None | N |
| F/D | 0.9966 | likely_pathogenic | 0.9973 | pathogenic | -2.728 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/E | 0.9957 | likely_pathogenic | 0.9968 | pathogenic | -2.549 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/G | 0.9806 | likely_pathogenic | 0.983 | pathogenic | -3.221 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/H | 0.9126 | likely_pathogenic | 0.9274 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/I | 0.5543 | ambiguous | 0.6439 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.484121419 | None | None | N |
| F/K | 0.9921 | likely_pathogenic | 0.9939 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/L | 0.9637 | likely_pathogenic | 0.9737 | pathogenic | -1.415 | Destabilizing | 0.999 | D | 0.617 | neutral | N | 0.506067895 | None | None | N |
| F/M | 0.8274 | likely_pathogenic | 0.8705 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| F/N | 0.9759 | likely_pathogenic | 0.9825 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/P | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/Q | 0.983 | likely_pathogenic | 0.9869 | pathogenic | -2.328 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| F/R | 0.9803 | likely_pathogenic | 0.9839 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/S | 0.9125 | likely_pathogenic | 0.9275 | pathogenic | -3.052 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.505608003 | None | None | N |
| F/T | 0.9488 | likely_pathogenic | 0.9604 | pathogenic | -2.766 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/V | 0.5374 | ambiguous | 0.6205 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.466182362 | None | None | N |
| F/W | 0.7324 | likely_pathogenic | 0.7387 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| F/Y | 0.2209 | likely_benign | 0.2522 | benign | -0.787 | Destabilizing | 0.999 | D | 0.57 | neutral | N | 0.494789785 | 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.