Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27361 | 82306;82307;82308 | chr2:178564051;178564050;178564049 | chr2:179428778;179428777;179428776 |
| N2AB | 25720 | 77383;77384;77385 | chr2:178564051;178564050;178564049 | chr2:179428778;179428777;179428776 |
| N2A | 24793 | 74602;74603;74604 | chr2:178564051;178564050;178564049 | chr2:179428778;179428777;179428776 |
| N2B | 18296 | 55111;55112;55113 | chr2:178564051;178564050;178564049 | chr2:179428778;179428777;179428776 |
| Novex-1 | 18421 | 55486;55487;55488 | chr2:178564051;178564050;178564049 | chr2:179428778;179428777;179428776 |
| Novex-2 | 18488 | 55687;55688;55689 | chr2:178564051;178564050;178564049 | chr2:179428778;179428777;179428776 |
| 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/A | rs56137800  |
-0.742 | 0.998 | N | 0.737 | 0.335 | None | gnomAD-2.1.1 | 2.54402E-03 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.56557E-02 | None | 2.61421E-04 | None | 0 | 7.83E-06 | 1.1236E-03 |
| P/A | rs56137800 |
-0.742 | 0.998 | N | 0.737 | 0.335 | None | gnomAD-3.1.2 | 1.00613E-03 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 2.80573E-02 | None | 0 | 0 | 1.47E-05 | 8.29531E-04 | 1.43267E-03 |
| P/A | rs56137800 |
-0.742 | 0.998 | N | 0.737 | 0.335 | None | 1000 genomes | 4.99201E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 2.48E-02 | 0 | None | None | None | 0 | None |
| P/A | rs56137800 |
-0.742 | 0.998 | N | 0.737 | 0.335 | None | gnomAD-4.0.0 | 8.86783E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.89525E-02 | None | 0 | 1.65071E-04 | 1.01719E-05 | 3.29402E-04 | 1.44046E-03 |
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 | 0.0834 | likely_benign | 0.0878 | benign | -0.73 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | N | 0.4722963 | None | None | N |
| P/C | 0.4441 | ambiguous | 0.5334 | ambiguous | -0.783 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/D | 0.3912 | ambiguous | 0.4952 | ambiguous | -0.396 | Destabilizing | 0.998 | D | 0.812 | deleterious | None | None | None | None | N |
| P/E | 0.3135 | likely_benign | 0.3925 | ambiguous | -0.469 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| P/F | 0.407 | ambiguous | 0.5208 | ambiguous | -0.674 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/G | 0.3025 | likely_benign | 0.348 | ambiguous | -0.927 | Destabilizing | 0.997 | D | 0.815 | deleterious | None | None | None | None | N |
| P/H | 0.2024 | likely_benign | 0.2712 | benign | -0.377 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.481147857 | None | None | N |
| P/I | 0.2819 | likely_benign | 0.3645 | ambiguous | -0.337 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/K | 0.3536 | ambiguous | 0.4312 | ambiguous | -0.708 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| P/L | 0.1188 | likely_benign | 0.1508 | benign | -0.337 | Destabilizing | 0.999 | D | 0.869 | deleterious | N | 0.497213387 | None | None | N |
| P/M | 0.3008 | likely_benign | 0.3713 | ambiguous | -0.44 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/N | 0.2573 | likely_benign | 0.3244 | benign | -0.504 | Destabilizing | 0.91 | D | 0.556 | neutral | None | None | None | None | N |
| P/Q | 0.1919 | likely_benign | 0.2467 | benign | -0.703 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/R | 0.2239 | likely_benign | 0.2926 | benign | -0.176 | Destabilizing | 0.999 | D | 0.877 | deleterious | D | 0.528496299 | None | None | N |
| P/S | 0.1148 | likely_benign | 0.1448 | benign | -0.934 | Destabilizing | 0.999 | D | 0.799 | deleterious | N | 0.428081376 | None | None | N |
| P/T | 0.1081 | likely_benign | 0.1404 | benign | -0.899 | Destabilizing | 0.999 | D | 0.818 | deleterious | N | 0.40543659 | None | None | N |
| P/V | 0.2094 | likely_benign | 0.2606 | benign | -0.432 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/W | 0.6267 | likely_pathogenic | 0.7241 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/Y | 0.4196 | ambiguous | 0.5208 | ambiguous | -0.488 | Destabilizing | 1.0 | D | 0.881 | 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.