Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27497 | 82714;82715;82716 | chr2:178563643;178563642;178563641 | chr2:179428370;179428369;179428368 |
| N2AB | 25856 | 77791;77792;77793 | chr2:178563643;178563642;178563641 | chr2:179428370;179428369;179428368 |
| N2A | 24929 | 75010;75011;75012 | chr2:178563643;178563642;178563641 | chr2:179428370;179428369;179428368 |
| N2B | 18432 | 55519;55520;55521 | chr2:178563643;178563642;178563641 | chr2:179428370;179428369;179428368 |
| Novex-1 | 18557 | 55894;55895;55896 | chr2:178563643;178563642;178563641 | chr2:179428370;179428369;179428368 |
| Novex-2 | 18624 | 56095;56096;56097 | chr2:178563643;178563642;178563641 | chr2:179428370;179428369;179428368 |
| 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/E | None | None | 1.0 | D | 0.867 | 0.666 | 0.523444149082 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| G/R | rs201158906  |
-0.302 | 1.0 | N | 0.856 | 0.592 | 0.607993034302 | gnomAD-2.1.1 | 1.6164E-03 | None | None | None | None | I | None | 2.894E-04 | 3.39309E-04 | None | 0 | 0 | None | 3.27E-05 | None | 6.71356E-03 | 1.96755E-03 | 1.82226E-03 |
| G/R | rs201158906 |
-0.302 | 1.0 | N | 0.856 | 0.592 | 0.607993034302 | gnomAD-3.1.2 | 1.32834E-03 | None | None | None | None | I | None | 1.2075E-04 | 3.93236E-04 | 1.09649E-03 | 0 | 0 | None | 9.70599E-03 | 0 | 1.2643E-03 | 0 | 4.77555E-04 |
| G/R | rs201158906 |
-0.302 | 1.0 | N | 0.856 | 0.592 | 0.607993034302 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/R | rs201158906 |
-0.302 | 1.0 | N | 0.856 | 0.592 | 0.607993034302 | gnomAD-4.0.0 | 1.2976E-03 | None | None | None | None | I | None | 1.3334E-04 | 4E-04 | None | 0 | 0 | None | 6.48296E-03 | 3.29924E-04 | 1.32906E-03 | 4.39242E-05 | 1.12025E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7344 | likely_pathogenic | 0.7379 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.527847597 | None | None | I |
| G/C | 0.873 | likely_pathogenic | 0.855 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/D | 0.9678 | likely_pathogenic | 0.9665 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/E | 0.9732 | likely_pathogenic | 0.9732 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.530707979 | None | None | I |
| G/F | 0.9862 | likely_pathogenic | 0.985 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/H | 0.9737 | likely_pathogenic | 0.972 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/I | 0.9808 | likely_pathogenic | 0.9792 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/K | 0.9761 | likely_pathogenic | 0.9745 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/L | 0.9775 | likely_pathogenic | 0.9771 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/M | 0.9863 | likely_pathogenic | 0.9864 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/N | 0.9488 | likely_pathogenic | 0.9466 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9964 | likely_pathogenic | 0.9967 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Q | 0.968 | likely_pathogenic | 0.9673 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/R | 0.9229 | likely_pathogenic | 0.9172 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.505539833 | None | None | I |
| G/S | 0.6384 | likely_pathogenic | 0.63 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/T | 0.9244 | likely_pathogenic | 0.9224 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/V | 0.9613 | likely_pathogenic | 0.9604 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.525645551 | None | None | I |
| G/W | 0.967 | likely_pathogenic | 0.9646 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Y | 0.9761 | likely_pathogenic | 0.9722 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
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.