Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23566 | 70921;70922;70923 | chr2:178575436;178575435;178575434 | chr2:179440163;179440162;179440161 |
| N2AB | 21925 | 65998;65999;66000 | chr2:178575436;178575435;178575434 | chr2:179440163;179440162;179440161 |
| N2A | 20998 | 63217;63218;63219 | chr2:178575436;178575435;178575434 | chr2:179440163;179440162;179440161 |
| N2B | 14501 | 43726;43727;43728 | chr2:178575436;178575435;178575434 | chr2:179440163;179440162;179440161 |
| Novex-1 | 14626 | 44101;44102;44103 | chr2:178575436;178575435;178575434 | chr2:179440163;179440162;179440161 |
| Novex-2 | 14693 | 44302;44303;44304 | chr2:178575436;178575435;178575434 | chr2:179440163;179440162;179440161 |
| 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/R | rs55801134  |
-0.564 | 1.0 | N | 0.897 | 0.639 | None | gnomAD-2.1.1 | 1.20408E-02 | None | None | None | None | N | None | 2.10761E-03 | 2.94384E-03 | None | 1.22117E-02 | 5.14E-05 | None | 1.92937E-03 | None | 5.21259E-02 | 1.28205E-02 | 1.22466E-02 |
| G/R | rs55801134 |
-0.564 | 1.0 | N | 0.897 | 0.639 | None | gnomAD-3.1.2 | 1.15781E-02 | None | None | None | None | N | None | 2.43738E-03 | 5.50459E-03 | 7.67544E-03 | 1.12392E-02 | 0 | None | 5.11031E-02 | 0 | 1.41916E-02 | 2.06868E-03 | 6.22605E-03 |
| G/R | rs55801134 |
-0.564 | 1.0 | N | 0.897 | 0.639 | None | 1000 genomes | 4.39297E-03 | None | None | None | None | N | None | 0 | 5.8E-03 | None | None | 0 | 1.69E-02 | None | None | None | 1E-03 | None |
| G/R | rs55801134 |
-0.564 | 1.0 | N | 0.897 | 0.639 | None | gnomAD-4.0.0 | 1.31106E-02 | None | None | None | None | N | None | 2.14598E-03 | 3.59988E-03 | None | 1.09166E-02 | 2.23115E-05 | None | 4.83281E-02 | 3.30251E-04 | 1.39518E-02 | 2.13004E-03 | 1.12068E-02 |
| G/V | None | None | 1.0 | D | 0.901 | 0.614 | 0.647459595057 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 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 | 0.2615 | likely_benign | 0.2387 | benign | -0.589 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.489391496 | None | None | N |
| G/C | 0.4799 | ambiguous | 0.48 | ambiguous | -0.843 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.504003486 | None | None | N |
| G/D | 0.8205 | likely_pathogenic | 0.8292 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.488163729 | None | None | N |
| G/E | 0.8426 | likely_pathogenic | 0.84 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/F | 0.9477 | likely_pathogenic | 0.9441 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/H | 0.8288 | likely_pathogenic | 0.8285 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/I | 0.9377 | likely_pathogenic | 0.9301 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/K | 0.9505 | likely_pathogenic | 0.9504 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| G/L | 0.9138 | likely_pathogenic | 0.9029 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/M | 0.9044 | likely_pathogenic | 0.8992 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/N | 0.6876 | likely_pathogenic | 0.7048 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/Q | 0.8031 | likely_pathogenic | 0.8022 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/R | 0.8798 | likely_pathogenic | 0.8789 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.897 | deleterious | N | 0.491669221 | None | None | N |
| G/S | 0.1612 | likely_benign | 0.1652 | benign | -1.196 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.499186539 | None | None | N |
| G/T | 0.613 | likely_pathogenic | 0.6016 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/V | 0.8646 | likely_pathogenic | 0.8481 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.522650718 | None | None | N |
| G/W | 0.9199 | likely_pathogenic | 0.9135 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/Y | 0.8732 | likely_pathogenic | 0.8627 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.869 | 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.