Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17119 | 51580;51581;51582 | chr2:178610171;178610170;178610169 | chr2:179474898;179474897;179474896 |
| N2AB | 15478 | 46657;46658;46659 | chr2:178610171;178610170;178610169 | chr2:179474898;179474897;179474896 |
| N2A | 14551 | 43876;43877;43878 | chr2:178610171;178610170;178610169 | chr2:179474898;179474897;179474896 |
| N2B | 8054 | 24385;24386;24387 | chr2:178610171;178610170;178610169 | chr2:179474898;179474897;179474896 |
| Novex-1 | 8179 | 24760;24761;24762 | chr2:178610171;178610170;178610169 | chr2:179474898;179474897;179474896 |
| Novex-2 | 8246 | 24961;24962;24963 | chr2:178610171;178610170;178610169 | chr2:179474898;179474897;179474896 |
| 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/L | rs772013942  |
-1.393 | 0.999 | N | 0.69 | 0.572 | 0.541239005379 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs772013942 |
-1.393 | 0.999 | N | 0.69 | 0.572 | 0.541239005379 | gnomAD-4.0.0 | 3.18568E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.77145E-05 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 0 |
| F/S | rs954360499 |
-3.841 | 1.0 | D | 0.843 | 0.742 | 0.766503906644 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/S | rs954360499 |
-3.841 | 1.0 | D | 0.843 | 0.742 | 0.766503906644 | gnomAD-4.0.0 | 1.59282E-06 | None | None | None | None | N | None | 0 | 2.2877E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/V | rs370696020 |
-1.908 | 1.0 | N | 0.774 | 0.522 | None | gnomAD-2.1.1 | 7.51E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.57546E-04 | None | 0 | 5.48E-05 | 0 |
| F/V | rs370696020 |
-1.908 | 1.0 | N | 0.774 | 0.522 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07039E-04 | 0 |
| F/V | rs370696020 |
-1.908 | 1.0 | N | 0.774 | 0.522 | None | gnomAD-4.0.0 | 3.53369E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.6518E-04 | 2.03507E-05 | 3.51393E-04 | 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 | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.76 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| F/C | 0.9856 | likely_pathogenic | 0.988 | pathogenic | -1.956 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.550264855 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.82 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.59 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| F/G | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -3.198 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/H | 0.9972 | likely_pathogenic | 0.9971 | pathogenic | -2.163 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/I | 0.9676 | likely_pathogenic | 0.9754 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.491033657 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.74 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/L | 0.9929 | likely_pathogenic | 0.9939 | pathogenic | -1.307 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | N | 0.498390717 | None | None | N |
| F/M | 0.9866 | likely_pathogenic | 0.9885 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| F/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.463 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.273 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/R | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.471 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/S | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -3.884 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.538908549 | None | None | N |
| F/T | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -3.532 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/V | 0.9687 | likely_pathogenic | 0.9767 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.476368761 | None | None | N |
| F/W | 0.9533 | likely_pathogenic | 0.9525 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/Y | 0.8295 | likely_pathogenic | 0.8702 | pathogenic | -1.126 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.49978675 | 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.