Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19470 | 58633;58634;58635 | chr2:178593985;178593984;178593983 | chr2:179458712;179458711;179458710 |
| N2AB | 17829 | 53710;53711;53712 | chr2:178593985;178593984;178593983 | chr2:179458712;179458711;179458710 |
| N2A | 16902 | 50929;50930;50931 | chr2:178593985;178593984;178593983 | chr2:179458712;179458711;179458710 |
| N2B | 10405 | 31438;31439;31440 | chr2:178593985;178593984;178593983 | chr2:179458712;179458711;179458710 |
| Novex-1 | 10530 | 31813;31814;31815 | chr2:178593985;178593984;178593983 | chr2:179458712;179458711;179458710 |
| Novex-2 | 10597 | 32014;32015;32016 | chr2:178593985;178593984;178593983 | chr2:179458712;179458711;179458710 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.667 | 0.359 | 0.348983352498 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32116E-05 | 0 |
| G/D | rs750836050  |
-0.473 | 1.0 | D | 0.821 | 0.445 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs750836050 |
-0.473 | 1.0 | D | 0.821 | 0.445 | None | gnomAD-4.0.0 | 2.05308E-06 | None | None | None | None | N | None | 0 | 0 | None | 7.6558E-05 | 0 | None | 0 | 0 | 0 | 0 | 1.65695E-05 |
| G/V | rs750836050 |
0.551 | 1.0 | N | 0.862 | 0.456 | 0.604892984849 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/V | rs750836050 |
0.551 | 1.0 | N | 0.862 | 0.456 | 0.604892984849 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79916E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.159 | likely_benign | 0.1408 | benign | -0.299 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.458094852 | None | None | N |
| G/C | 0.5005 | ambiguous | 0.4671 | ambiguous | -0.53 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.51329756 | None | None | N |
| G/D | 0.8436 | likely_pathogenic | 0.8108 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.529363091 | None | None | N |
| G/E | 0.8409 | likely_pathogenic | 0.8029 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/F | 0.9012 | likely_pathogenic | 0.884 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/H | 0.939 | likely_pathogenic | 0.9223 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/I | 0.6077 | likely_pathogenic | 0.5799 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/K | 0.9647 | likely_pathogenic | 0.9562 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/L | 0.8085 | likely_pathogenic | 0.7787 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/M | 0.8264 | likely_pathogenic | 0.7998 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/N | 0.8683 | likely_pathogenic | 0.8504 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/P | 0.9952 | likely_pathogenic | 0.9952 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/Q | 0.9116 | likely_pathogenic | 0.8928 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/R | 0.9337 | likely_pathogenic | 0.9166 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.485755235 | None | None | N |
| G/S | 0.3117 | likely_benign | 0.2832 | benign | -0.731 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.459655077 | None | None | N |
| G/T | 0.5286 | ambiguous | 0.4991 | ambiguous | -0.661 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/V | 0.462 | ambiguous | 0.4374 | ambiguous | -0.028 | Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.480454423 | None | None | N |
| G/W | 0.9044 | likely_pathogenic | 0.8852 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/Y | 0.8536 | likely_pathogenic | 0.8291 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.823 | 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.