Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18243 | 54952;54953;54954 | chr2:178603960;178603959;178603958 | chr2:179468687;179468686;179468685 |
| N2AB | 16602 | 50029;50030;50031 | chr2:178603960;178603959;178603958 | chr2:179468687;179468686;179468685 |
| N2A | 15675 | 47248;47249;47250 | chr2:178603960;178603959;178603958 | chr2:179468687;179468686;179468685 |
| N2B | 9178 | 27757;27758;27759 | chr2:178603960;178603959;178603958 | chr2:179468687;179468686;179468685 |
| Novex-1 | 9303 | 28132;28133;28134 | chr2:178603960;178603959;178603958 | chr2:179468687;179468686;179468685 |
| Novex-2 | 9370 | 28333;28334;28335 | chr2:178603960;178603959;178603958 | chr2:179468687;179468686;179468685 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs372447571  |
-2.041 | 0.122 | N | 0.313 | 0.225 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| Q/E | rs372447571 |
-2.041 | 0.122 | N | 0.313 | 0.225 | None | gnomAD-4.0.0 | 2.05395E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69994E-06 | 0 | 0 |
| Q/H | rs548723690 |
-2.017 | 0.998 | N | 0.679 | 0.323 | 0.28492961333 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11757E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/H | rs548723690 |
-2.017 | 0.998 | N | 0.679 | 0.323 | 0.28492961333 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.90168E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs548723690 |
-2.017 | 0.998 | N | 0.679 | 0.323 | 0.28492961333 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| Q/H | rs548723690 |
-2.017 | 0.998 | N | 0.679 | 0.323 | 0.28492961333 | gnomAD-4.0.0 | 2.4804E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.93935E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4577 | ambiguous | 0.3499 | ambiguous | -1.539 | Destabilizing | 0.97 | D | 0.718 | prob.delet. | None | None | None | None | N |
| Q/C | 0.7355 | likely_pathogenic | 0.6129 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| Q/D | 0.8861 | likely_pathogenic | 0.8438 | pathogenic | -2.196 | Highly Destabilizing | 0.942 | D | 0.743 | deleterious | None | None | None | None | N |
| Q/E | 0.1314 | likely_benign | 0.1253 | benign | -1.9 | Destabilizing | 0.122 | N | 0.313 | neutral | N | 0.380238996 | None | None | N |
| Q/F | 0.8919 | likely_pathogenic | 0.82 | pathogenic | -0.859 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| Q/G | 0.6859 | likely_pathogenic | 0.5951 | pathogenic | -1.964 | Destabilizing | 0.985 | D | 0.679 | prob.neutral | None | None | None | None | N |
| Q/H | 0.5954 | likely_pathogenic | 0.4519 | ambiguous | -1.49 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | N | 0.497394241 | None | None | N |
| Q/I | 0.658 | likely_pathogenic | 0.4719 | ambiguous | -0.358 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| Q/K | 0.3418 | ambiguous | 0.2432 | benign | -0.912 | Destabilizing | 0.91 | D | 0.753 | deleterious | N | 0.435670991 | None | None | N |
| Q/L | 0.3757 | ambiguous | 0.2566 | benign | -0.358 | Destabilizing | 0.98 | D | 0.69 | prob.neutral | N | 0.467764767 | None | None | N |
| Q/M | 0.513 | ambiguous | 0.4131 | ambiguous | -0.259 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| Q/N | 0.7599 | likely_pathogenic | 0.6912 | pathogenic | -1.655 | Destabilizing | 0.985 | D | 0.664 | neutral | None | None | None | None | N |
| Q/P | 0.9676 | likely_pathogenic | 0.9626 | pathogenic | -0.73 | Destabilizing | 0.998 | D | 0.684 | prob.neutral | N | 0.49231065 | None | None | N |
| Q/R | 0.3106 | likely_benign | 0.2099 | benign | -1.095 | Destabilizing | 0.961 | D | 0.699 | prob.neutral | N | 0.460529363 | None | None | N |
| Q/S | 0.4662 | ambiguous | 0.4043 | ambiguous | -1.949 | Destabilizing | 0.97 | D | 0.731 | prob.delet. | None | None | None | None | N |
| Q/T | 0.4398 | ambiguous | 0.3239 | benign | -1.489 | Destabilizing | 0.985 | D | 0.678 | prob.neutral | None | None | None | None | N |
| Q/V | 0.4472 | ambiguous | 0.2935 | benign | -0.73 | Destabilizing | 0.996 | D | 0.711 | prob.delet. | None | None | None | None | N |
| Q/W | 0.8876 | likely_pathogenic | 0.7917 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| Q/Y | 0.8018 | likely_pathogenic | 0.6966 | pathogenic | -0.626 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | 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.