Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16906 | 50941;50942;50943 | chr2:178611513;178611512;178611511 | chr2:179476240;179476239;179476238 |
| N2AB | 15265 | 46018;46019;46020 | chr2:178611513;178611512;178611511 | chr2:179476240;179476239;179476238 |
| N2A | 14338 | 43237;43238;43239 | chr2:178611513;178611512;178611511 | chr2:179476240;179476239;179476238 |
| N2B | 7841 | 23746;23747;23748 | chr2:178611513;178611512;178611511 | chr2:179476240;179476239;179476238 |
| Novex-1 | 7966 | 24121;24122;24123 | chr2:178611513;178611512;178611511 | chr2:179476240;179476239;179476238 |
| Novex-2 | 8033 | 24322;24323;24324 | chr2:178611513;178611512;178611511 | chr2:179476240;179476239;179476238 |
| 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/L | rs1451657059  |
-0.467 | 1.0 | N | 0.865 | 0.419 | 0.570543898189 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1451657059 |
-0.467 | 1.0 | N | 0.865 | 0.419 | 0.570543898189 | gnomAD-4.0.0 | 1.59294E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78056E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs1451657059 |
None | 1.0 | D | 0.833 | 0.497 | 0.430694319191 | 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 |
| P/Q | rs1451657059 |
None | 1.0 | D | 0.833 | 0.497 | 0.430694319191 | gnomAD-4.0.0 | 6.58484E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47249E-05 | 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 | 0.2216 | likely_benign | 0.3493 | ambiguous | -1.582 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.511282992 | None | None | N |
| P/C | 0.8526 | likely_pathogenic | 0.9348 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/D | 0.9557 | likely_pathogenic | 0.9779 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/E | 0.8501 | likely_pathogenic | 0.9251 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/F | 0.9194 | likely_pathogenic | 0.9681 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/G | 0.8066 | likely_pathogenic | 0.9159 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/H | 0.7943 | likely_pathogenic | 0.903 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/I | 0.5503 | ambiguous | 0.7802 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/K | 0.9126 | likely_pathogenic | 0.9588 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/L | 0.3036 | likely_benign | 0.4834 | ambiguous | -0.804 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.481682569 | None | None | N |
| P/M | 0.6287 | likely_pathogenic | 0.8082 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/N | 0.8703 | likely_pathogenic | 0.9524 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/Q | 0.6802 | likely_pathogenic | 0.8223 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.580400769 | None | None | N |
| P/R | 0.8254 | likely_pathogenic | 0.9023 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.503260054 | None | None | N |
| P/S | 0.5947 | likely_pathogenic | 0.7812 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.502274857 | None | None | N |
| P/T | 0.373 | ambiguous | 0.6308 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.483475167 | None | None | N |
| P/V | 0.3959 | ambiguous | 0.6336 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/W | 0.9676 | likely_pathogenic | 0.9885 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/Y | 0.9045 | likely_pathogenic | 0.9627 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.842 | 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.