Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15744 | 47455;47456;47457 | chr2:178618228;178618227;178618226 | chr2:179482955;179482954;179482953 |
| N2AB | 14103 | 42532;42533;42534 | chr2:178618228;178618227;178618226 | chr2:179482955;179482954;179482953 |
| N2A | 13176 | 39751;39752;39753 | chr2:178618228;178618227;178618226 | chr2:179482955;179482954;179482953 |
| N2B | 6679 | 20260;20261;20262 | chr2:178618228;178618227;178618226 | chr2:179482955;179482954;179482953 |
| Novex-1 | 6804 | 20635;20636;20637 | chr2:178618228;178618227;178618226 | chr2:179482955;179482954;179482953 |
| Novex-2 | 6871 | 20836;20837;20838 | chr2:178618228;178618227;178618226 | chr2:179482955;179482954;179482953 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1280526830  |
-1.932 | 0.046 | N | 0.383 | 0.147 | 0.397391247328 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 1.54448E-04 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1280526830 |
-1.932 | 0.046 | N | 0.383 | 0.147 | 0.397391247328 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94628E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1280526830 |
-1.932 | 0.046 | N | 0.383 | 0.147 | 0.397391247328 | gnomAD-4.0.0 | 6.41392E-06 | None | None | None | None | N | None | 0 | 1.69676E-05 | None | 0 | 9.72148E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs1280526830 |
-2.445 | 0.964 | N | 0.717 | 0.323 | 0.793723814882 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs1280526830 |
-2.445 | 0.964 | N | 0.717 | 0.323 | 0.793723814882 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs1280526830 |
-2.445 | 0.964 | N | 0.717 | 0.323 | 0.793723814882 | gnomAD-4.0.0 | 6.58224E-06 | None | None | None | None | N | None | 2.41464E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1832 | likely_benign | 0.1676 | benign | -1.544 | Destabilizing | 0.046 | N | 0.383 | neutral | N | 0.464839245 | None | None | N |
| V/C | 0.742 | likely_pathogenic | 0.6675 | pathogenic | -1.057 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| V/D | 0.6166 | likely_pathogenic | 0.5862 | pathogenic | -1.364 | Destabilizing | 0.993 | D | 0.805 | deleterious | None | None | None | None | N |
| V/E | 0.3557 | ambiguous | 0.3306 | benign | -1.331 | Destabilizing | 0.982 | D | 0.735 | prob.delet. | N | 0.454988226 | None | None | N |
| V/F | 0.312 | likely_benign | 0.2781 | benign | -1.052 | Destabilizing | 0.993 | D | 0.779 | deleterious | None | None | None | None | N |
| V/G | 0.3705 | ambiguous | 0.3322 | benign | -1.895 | Destabilizing | 0.964 | D | 0.717 | prob.delet. | N | 0.519520182 | None | None | N |
| V/H | 0.6942 | likely_pathogenic | 0.6421 | pathogenic | -1.454 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| V/I | 0.0936 | likely_benign | 0.091 | benign | -0.663 | Destabilizing | 0.863 | D | 0.575 | neutral | N | 0.466554061 | None | None | N |
| V/K | 0.3729 | ambiguous | 0.3212 | benign | -1.322 | Destabilizing | 0.986 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/L | 0.2723 | likely_benign | 0.2356 | benign | -0.663 | Destabilizing | 0.863 | D | 0.595 | neutral | N | 0.426619802 | None | None | N |
| V/M | 0.1799 | likely_benign | 0.1657 | benign | -0.581 | Destabilizing | 0.998 | D | 0.73 | prob.delet. | None | None | None | None | N |
| V/N | 0.4604 | ambiguous | 0.4324 | ambiguous | -1.152 | Destabilizing | 0.993 | D | 0.829 | deleterious | None | None | None | None | N |
| V/P | 0.9511 | likely_pathogenic | 0.9361 | pathogenic | -0.922 | Destabilizing | 0.993 | D | 0.765 | deleterious | None | None | None | None | N |
| V/Q | 0.34 | ambiguous | 0.3021 | benign | -1.272 | Destabilizing | 0.993 | D | 0.801 | deleterious | None | None | None | None | N |
| V/R | 0.3249 | likely_benign | 0.2855 | benign | -0.87 | Destabilizing | 0.993 | D | 0.825 | deleterious | None | None | None | None | N |
| V/S | 0.2562 | likely_benign | 0.2352 | benign | -1.703 | Destabilizing | 0.973 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/T | 0.1436 | likely_benign | 0.1333 | benign | -1.56 | Destabilizing | 0.953 | D | 0.61 | neutral | None | None | None | None | N |
| V/W | 0.9045 | likely_pathogenic | 0.8663 | pathogenic | -1.283 | Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| V/Y | 0.7376 | likely_pathogenic | 0.6829 | pathogenic | -0.983 | Destabilizing | 0.998 | D | 0.787 | 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.