Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27564 | 82915;82916;82917 | chr2:178563442;178563441;178563440 | chr2:179428169;179428168;179428167 |
| N2AB | 25923 | 77992;77993;77994 | chr2:178563442;178563441;178563440 | chr2:179428169;179428168;179428167 |
| N2A | 24996 | 75211;75212;75213 | chr2:178563442;178563441;178563440 | chr2:179428169;179428168;179428167 |
| N2B | 18499 | 55720;55721;55722 | chr2:178563442;178563441;178563440 | chr2:179428169;179428168;179428167 |
| Novex-1 | 18624 | 56095;56096;56097 | chr2:178563442;178563441;178563440 | chr2:179428169;179428168;179428167 |
| Novex-2 | 18691 | 56296;56297;56298 | chr2:178563442;178563441;178563440 | chr2:179428169;179428168;179428167 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs55634791  |
None | 1.0 | N | 0.763 | 0.427 | 0.547808496137 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/E | rs55634791 |
None | 1.0 | N | 0.763 | 0.427 | 0.547808496137 | gnomAD-4.0.0 | 6.57929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47093E-05 | 0 | 0 |
| A/V | rs55634791 |
-0.691 | 0.952 | N | 0.345 | 0.196 | None | gnomAD-2.1.1 | 6.93724E-04 | None | None | None | None | N | None | 4.13565E-04 | 2.83E-05 | None | 0 | 1.03018E-04 | None | 0 | None | 8.00192E-04 | 1.23737E-03 | 4.21585E-04 |
| A/V | rs55634791 |
-0.691 | 0.952 | N | 0.345 | 0.196 | None | gnomAD-3.1.2 | 8.4215E-04 | None | None | None | None | N | None | 3.13979E-04 | 1.31354E-04 | 0 | 0 | 0 | None | 1.03754E-03 | 0 | 1.48564E-03 | 0 | 4.78927E-04 |
| A/V | rs55634791 |
-0.691 | 0.952 | N | 0.345 | 0.196 | None | gnomAD-4.0.0 | 1.18196E-03 | None | None | None | None | N | None | 2.53766E-04 | 1.00113E-04 | None | 0 | 6.69792E-05 | None | 1.12518E-03 | 0 | 1.49697E-03 | 3.29381E-05 | 6.08526E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.768 | likely_pathogenic | 0.7927 | pathogenic | -2.028 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/D | 0.9942 | likely_pathogenic | 0.9934 | pathogenic | -3.063 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/E | 0.9903 | likely_pathogenic | 0.9894 | pathogenic | -2.93 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.509104096 | None | None | N |
| A/F | 0.9658 | likely_pathogenic | 0.9673 | pathogenic | -0.921 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| A/G | 0.5267 | ambiguous | 0.5272 | ambiguous | -1.64 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.48088453 | None | None | N |
| A/H | 0.993 | likely_pathogenic | 0.9931 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/I | 0.864 | likely_pathogenic | 0.8661 | pathogenic | -0.412 | Destabilizing | 0.987 | D | 0.755 | deleterious | None | None | None | None | N |
| A/K | 0.9971 | likely_pathogenic | 0.997 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/L | 0.7729 | likely_pathogenic | 0.7864 | pathogenic | -0.412 | Destabilizing | 0.987 | D | 0.666 | prob.neutral | None | None | None | None | N |
| A/M | 0.8688 | likely_pathogenic | 0.8804 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/N | 0.974 | likely_pathogenic | 0.9761 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/P | 0.8205 | likely_pathogenic | 0.8263 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.471690591 | None | None | N |
| A/Q | 0.9793 | likely_pathogenic | 0.9796 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/R | 0.9868 | likely_pathogenic | 0.9869 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/S | 0.3619 | ambiguous | 0.3562 | ambiguous | -2.078 | Highly Destabilizing | 0.996 | D | 0.635 | neutral | N | 0.476098364 | None | None | N |
| A/T | 0.6924 | likely_pathogenic | 0.7195 | pathogenic | -1.848 | Destabilizing | 0.991 | D | 0.661 | prob.neutral | N | 0.508203093 | None | None | N |
| A/V | 0.635 | likely_pathogenic | 0.6419 | pathogenic | -0.672 | Destabilizing | 0.952 | D | 0.345 | neutral | N | 0.48567295 | None | None | N |
| A/W | 0.9972 | likely_pathogenic | 0.9974 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/Y | 0.9876 | likely_pathogenic | 0.9882 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.818 | 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.