Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29723 | 89392;89393;89394 | chr2:178553944;178553943;178553942 | chr2:179418671;179418670;179418669 |
| N2AB | 28082 | 84469;84470;84471 | chr2:178553944;178553943;178553942 | chr2:179418671;179418670;179418669 |
| N2A | 27155 | 81688;81689;81690 | chr2:178553944;178553943;178553942 | chr2:179418671;179418670;179418669 |
| N2B | 20658 | 62197;62198;62199 | chr2:178553944;178553943;178553942 | chr2:179418671;179418670;179418669 |
| Novex-1 | 20783 | 62572;62573;62574 | chr2:178553944;178553943;178553942 | chr2:179418671;179418670;179418669 |
| Novex-2 | 20850 | 62773;62774;62775 | chr2:178553944;178553943;178553942 | chr2:179418671;179418670;179418669 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs1479424442  |
None | 0.999 | N | 0.859 | 0.507 | 0.330331372229 | 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 |
| S/P | rs1479424442 |
None | 0.999 | N | 0.859 | 0.507 | 0.330331372229 | gnomAD-4.0.0 | 6.56944E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46968E-05 | 0 | 0 |
| S/Y | None | None | 0.999 | D | 0.915 | 0.424 | 0.691544918794 | gnomAD-4.0.0 | 1.61291E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.42718E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4108 | ambiguous | 0.3796 | ambiguous | -0.555 | Destabilizing | 0.994 | D | 0.671 | prob.neutral | N | 0.486137996 | None | None | N |
| S/C | 0.405 | ambiguous | 0.3509 | ambiguous | -0.064 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.504459742 | None | None | N |
| S/D | 0.9738 | likely_pathogenic | 0.982 | pathogenic | -0.931 | Destabilizing | 0.998 | D | 0.695 | prob.delet. | None | None | None | None | N |
| S/E | 0.9915 | likely_pathogenic | 0.9938 | pathogenic | -0.731 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| S/F | 0.9826 | likely_pathogenic | 0.9856 | pathogenic | -0.364 | Destabilizing | 0.999 | D | 0.906 | deleterious | N | 0.510029149 | None | None | N |
| S/G | 0.354 | ambiguous | 0.333 | benign | -0.945 | Destabilizing | 0.998 | D | 0.742 | deleterious | None | None | None | None | N |
| S/H | 0.9822 | likely_pathogenic | 0.9856 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| S/I | 0.9581 | likely_pathogenic | 0.9614 | pathogenic | 0.44 | Stabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | None | N |
| S/K | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | 0.18 | Stabilizing | 0.998 | D | 0.703 | prob.delet. | None | None | None | None | N |
| S/L | 0.7994 | likely_pathogenic | 0.8166 | pathogenic | 0.44 | Stabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| S/M | 0.8638 | likely_pathogenic | 0.8836 | pathogenic | 0.215 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| S/N | 0.9107 | likely_pathogenic | 0.9319 | pathogenic | -0.456 | Destabilizing | 0.998 | D | 0.732 | deleterious | None | None | None | None | N |
| S/P | 0.9884 | likely_pathogenic | 0.9892 | pathogenic | 0.142 | Stabilizing | 0.999 | D | 0.859 | deleterious | N | 0.510789617 | None | None | N |
| S/Q | 0.988 | likely_pathogenic | 0.9903 | pathogenic | -0.19 | Destabilizing | 0.999 | D | 0.842 | deleterious | None | None | None | None | N |
| S/R | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -0.255 | Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | N |
| S/T | 0.1653 | likely_benign | 0.2044 | benign | -0.148 | Destabilizing | 0.997 | D | 0.703 | prob.delet. | N | 0.483806081 | None | None | N |
| S/V | 0.8776 | likely_pathogenic | 0.8755 | pathogenic | 0.142 | Stabilizing | 0.999 | D | 0.89 | deleterious | None | None | None | None | N |
| S/W | 0.9887 | likely_pathogenic | 0.9911 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| S/Y | 0.9828 | likely_pathogenic | 0.9867 | pathogenic | -0.159 | Destabilizing | 0.999 | D | 0.915 | deleterious | D | 0.532906344 | 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.