Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30277 | 91054;91055;91056 | chr2:178552071;178552070;178552069 | chr2:179416798;179416797;179416796 |
| N2AB | 28636 | 86131;86132;86133 | chr2:178552071;178552070;178552069 | chr2:179416798;179416797;179416796 |
| N2A | 27709 | 83350;83351;83352 | chr2:178552071;178552070;178552069 | chr2:179416798;179416797;179416796 |
| N2B | 21212 | 63859;63860;63861 | chr2:178552071;178552070;178552069 | chr2:179416798;179416797;179416796 |
| Novex-1 | 21337 | 64234;64235;64236 | chr2:178552071;178552070;178552069 | chr2:179416798;179416797;179416796 |
| Novex-2 | 21404 | 64435;64436;64437 | chr2:178552071;178552070;178552069 | chr2:179416798;179416797;179416796 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs1490223188  |
-0.118 | 1.0 | N | 0.728 | 0.395 | 0.62434799699 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/L | rs1490223188 |
-0.118 | 1.0 | N | 0.728 | 0.395 | 0.62434799699 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | None | None | 1.0 | N | 0.779 | 0.509 | 0.403040389579 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85835E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1771 | likely_benign | 0.1402 | benign | -0.396 | Destabilizing | 0.997 | D | 0.395 | neutral | N | 0.411831339 | None | None | I |
| S/C | 0.3274 | likely_benign | 0.284 | benign | -0.098 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| S/D | 0.9439 | likely_pathogenic | 0.8879 | pathogenic | -0.174 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | I |
| S/E | 0.9519 | likely_pathogenic | 0.9221 | pathogenic | -0.276 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | I |
| S/F | 0.7766 | likely_pathogenic | 0.6509 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| S/G | 0.2716 | likely_benign | 0.1904 | benign | -0.497 | Destabilizing | 0.999 | D | 0.458 | neutral | None | None | None | None | I |
| S/H | 0.8503 | likely_pathogenic | 0.7694 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| S/I | 0.69 | likely_pathogenic | 0.5928 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| S/K | 0.9841 | likely_pathogenic | 0.9683 | pathogenic | -0.453 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | I |
| S/L | 0.3771 | ambiguous | 0.2714 | benign | -0.254 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.519342806 | None | None | I |
| S/M | 0.6195 | likely_pathogenic | 0.5018 | ambiguous | 0.22 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| S/N | 0.65 | likely_pathogenic | 0.4772 | ambiguous | -0.126 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | I |
| S/P | 0.59 | likely_pathogenic | 0.4011 | ambiguous | -0.274 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.506571084 | None | None | I |
| S/Q | 0.8878 | likely_pathogenic | 0.8295 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| S/R | 0.9702 | likely_pathogenic | 0.9481 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| S/T | 0.2695 | likely_benign | 0.1949 | benign | -0.227 | Destabilizing | 0.999 | D | 0.429 | neutral | N | 0.43640171 | None | None | I |
| S/V | 0.6339 | likely_pathogenic | 0.5287 | ambiguous | -0.274 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| S/W | 0.8198 | likely_pathogenic | 0.7886 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| S/Y | 0.7045 | likely_pathogenic | 0.6113 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.805 | 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.