Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22040 | 66343;66344;66345 | chr2:178582338;178582337;178582336 | chr2:179447065;179447064;179447063 |
| N2AB | 20399 | 61420;61421;61422 | chr2:178582338;178582337;178582336 | chr2:179447065;179447064;179447063 |
| N2A | 19472 | 58639;58640;58641 | chr2:178582338;178582337;178582336 | chr2:179447065;179447064;179447063 |
| N2B | 12975 | 39148;39149;39150 | chr2:178582338;178582337;178582336 | chr2:179447065;179447064;179447063 |
| Novex-1 | 13100 | 39523;39524;39525 | chr2:178582338;178582337;178582336 | chr2:179447065;179447064;179447063 |
| Novex-2 | 13167 | 39724;39725;39726 | chr2:178582338;178582337;178582336 | chr2:179447065;179447064;179447063 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs560375322  |
-0.777 | 0.999 | N | 0.685 | 0.33 | 0.309839678437 | gnomAD-2.1.1 | 1.64E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.36911E-04 | None | 0 | 0 | 0 |
| D/N | rs560375322 |
-0.777 | 0.999 | N | 0.685 | 0.33 | 0.309839678437 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 2.08247E-04 | 0 |
| D/N | rs560375322 |
-0.777 | 0.999 | N | 0.685 | 0.33 | 0.309839678437 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| D/N | rs560375322 |
-0.777 | 0.999 | N | 0.685 | 0.33 | 0.309839678437 | gnomAD-4.0.0 | 1.49546E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.34541E-04 | None | 0 | 0 | 1.02117E-05 | 4.46788E-05 | 3.22227E-05 |
| D/Y | None | None | 1.0 | N | 0.808 | 0.447 | 0.481321013822 | gnomAD-4.0.0 | 2.06504E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80642E-06 | 0 | 1.66783E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3141 | likely_benign | 0.2478 | benign | -0.387 | Destabilizing | 0.958 | D | 0.662 | neutral | N | 0.513803701 | None | None | N |
| D/C | 0.8245 | likely_pathogenic | 0.744 | pathogenic | -0.039 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/E | 0.1758 | likely_benign | 0.1596 | benign | -0.48 | Destabilizing | 0.958 | D | 0.469 | neutral | N | 0.405193369 | None | None | N |
| D/F | 0.771 | likely_pathogenic | 0.6948 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/G | 0.5031 | ambiguous | 0.3941 | ambiguous | -0.619 | Destabilizing | 0.958 | D | 0.657 | neutral | N | 0.481671452 | None | None | N |
| D/H | 0.6141 | likely_pathogenic | 0.4727 | ambiguous | -0.412 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.492004254 | None | None | N |
| D/I | 0.4733 | ambiguous | 0.3678 | ambiguous | 0.184 | Stabilizing | 0.995 | D | 0.814 | deleterious | None | None | None | None | N |
| D/K | 0.6166 | likely_pathogenic | 0.4916 | ambiguous | 0.013 | Stabilizing | 0.991 | D | 0.678 | prob.neutral | None | None | None | None | N |
| D/L | 0.4953 | ambiguous | 0.3985 | ambiguous | 0.184 | Stabilizing | 0.991 | D | 0.779 | deleterious | None | None | None | None | N |
| D/M | 0.7101 | likely_pathogenic | 0.6349 | pathogenic | 0.427 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/N | 0.1933 | likely_benign | 0.1479 | benign | -0.217 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.475963914 | None | None | N |
| D/P | 0.6732 | likely_pathogenic | 0.5865 | pathogenic | 0.017 | Stabilizing | 0.086 | N | 0.369 | neutral | None | None | None | None | N |
| D/Q | 0.5402 | ambiguous | 0.4347 | ambiguous | -0.185 | Destabilizing | 0.995 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/R | 0.733 | likely_pathogenic | 0.6073 | pathogenic | 0.153 | Stabilizing | 0.995 | D | 0.792 | deleterious | None | None | None | None | N |
| D/S | 0.2626 | likely_benign | 0.2011 | benign | -0.364 | Destabilizing | 0.968 | D | 0.642 | neutral | None | None | None | None | N |
| D/T | 0.4184 | ambiguous | 0.3408 | ambiguous | -0.191 | Destabilizing | 0.991 | D | 0.68 | prob.neutral | None | None | None | None | N |
| D/V | 0.3028 | likely_benign | 0.2371 | benign | 0.017 | Stabilizing | 0.994 | D | 0.775 | deleterious | N | 0.497431526 | None | None | N |
| D/W | 0.9628 | likely_pathogenic | 0.9414 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/Y | 0.4667 | ambiguous | 0.3428 | ambiguous | -0.11 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.510957883 | 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.