Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31500 | 94723;94724;94725 | chr2:178547027;178547026;178547025 | chr2:179411754;179411753;179411752 |
| N2AB | 29859 | 89800;89801;89802 | chr2:178547027;178547026;178547025 | chr2:179411754;179411753;179411752 |
| N2A | 28932 | 87019;87020;87021 | chr2:178547027;178547026;178547025 | chr2:179411754;179411753;179411752 |
| N2B | 22435 | 67528;67529;67530 | chr2:178547027;178547026;178547025 | chr2:179411754;179411753;179411752 |
| Novex-1 | 22560 | 67903;67904;67905 | chr2:178547027;178547026;178547025 | chr2:179411754;179411753;179411752 |
| Novex-2 | 22627 | 68104;68105;68106 | chr2:178547027;178547026;178547025 | chr2:179411754;179411753;179411752 |
| 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 | None | None | 0.949 | N | 0.812 | 0.334 | 0.388010793773 | gnomAD-4.0.0 | 1.36998E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80089E-06 | 0 | 0 |
| P/R | rs747518732  |
-0.179 | 0.987 | N | 0.901 | 0.353 | 0.481616744073 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/R | rs747518732 |
-0.179 | 0.987 | N | 0.901 | 0.353 | 0.481616744073 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs747518732 |
-0.179 | 0.987 | N | 0.901 | 0.353 | 0.481616744073 | gnomAD-4.0.0 | 1.86097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54542E-06 | 0 | 0 |
| P/S | None | None | 0.949 | N | 0.833 | 0.182 | 0.359557344763 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1111 | likely_benign | 0.1269 | benign | -0.888 | Destabilizing | 0.032 | N | 0.389 | neutral | N | 0.511240611 | None | None | N |
| P/C | 0.5982 | likely_pathogenic | 0.6758 | pathogenic | -0.651 | Destabilizing | 0.997 | D | 0.895 | deleterious | None | None | None | None | N |
| P/D | 0.8867 | likely_pathogenic | 0.9216 | pathogenic | -0.654 | Destabilizing | 0.99 | D | 0.883 | deleterious | None | None | None | None | N |
| P/E | 0.7576 | likely_pathogenic | 0.8333 | pathogenic | -0.735 | Destabilizing | 0.98 | D | 0.871 | deleterious | None | None | None | None | N |
| P/F | 0.6582 | likely_pathogenic | 0.7364 | pathogenic | -0.851 | Destabilizing | 0.997 | D | 0.902 | deleterious | None | None | None | None | N |
| P/G | 0.4218 | ambiguous | 0.4589 | ambiguous | -1.099 | Destabilizing | 0.875 | D | 0.822 | deleterious | None | None | None | None | N |
| P/H | 0.4779 | ambiguous | 0.5655 | pathogenic | -0.611 | Destabilizing | 0.999 | D | 0.881 | deleterious | N | 0.478656031 | None | None | N |
| P/I | 0.6 | likely_pathogenic | 0.6691 | pathogenic | -0.456 | Destabilizing | 0.98 | D | 0.899 | deleterious | None | None | None | None | N |
| P/K | 0.8267 | likely_pathogenic | 0.8895 | pathogenic | -0.771 | Destabilizing | 0.98 | D | 0.875 | deleterious | None | None | None | None | N |
| P/L | 0.3065 | likely_benign | 0.3737 | ambiguous | -0.456 | Destabilizing | 0.949 | D | 0.812 | deleterious | N | 0.462118258 | None | None | N |
| P/M | 0.5427 | ambiguous | 0.6006 | pathogenic | -0.366 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| P/N | 0.6295 | likely_pathogenic | 0.6773 | pathogenic | -0.455 | Destabilizing | 0.99 | D | 0.908 | deleterious | None | None | None | None | N |
| P/Q | 0.4637 | ambiguous | 0.5476 | ambiguous | -0.705 | Destabilizing | 0.99 | D | 0.901 | deleterious | None | None | None | None | N |
| P/R | 0.6671 | likely_pathogenic | 0.7714 | pathogenic | -0.192 | Destabilizing | 0.987 | D | 0.901 | deleterious | N | 0.472642097 | None | None | N |
| P/S | 0.2474 | likely_benign | 0.2832 | benign | -0.876 | Destabilizing | 0.949 | D | 0.833 | deleterious | N | 0.467437856 | None | None | N |
| P/T | 0.2676 | likely_benign | 0.3216 | benign | -0.855 | Destabilizing | 0.974 | D | 0.815 | deleterious | N | 0.462171164 | None | None | N |
| P/V | 0.3939 | ambiguous | 0.457 | ambiguous | -0.563 | Destabilizing | 0.961 | D | 0.768 | deleterious | None | None | None | None | N |
| P/W | 0.8355 | likely_pathogenic | 0.8872 | pathogenic | -0.945 | Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Y | 0.6542 | likely_pathogenic | 0.7407 | pathogenic | -0.671 | Destabilizing | 0.999 | D | 0.9 | 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.