Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14657 | 44194;44195;44196 | chr2:178631079;178631078;178631077 | chr2:179495806;179495805;179495804 |
| N2AB | 13016 | 39271;39272;39273 | chr2:178631079;178631078;178631077 | chr2:179495806;179495805;179495804 |
| N2A | 12089 | 36490;36491;36492 | chr2:178631079;178631078;178631077 | chr2:179495806;179495805;179495804 |
| N2B | 5592 | 16999;17000;17001 | chr2:178631079;178631078;178631077 | chr2:179495806;179495805;179495804 |
| Novex-1 | 5717 | 17374;17375;17376 | chr2:178631079;178631078;178631077 | chr2:179495806;179495805;179495804 |
| Novex-2 | 5784 | 17575;17576;17577 | chr2:178631079;178631078;178631077 | chr2:179495806;179495805;179495804 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs772937665  |
-2.247 | 1.0 | D | 0.866 | 0.734 | 0.867611819263 | gnomAD-2.1.1 | 8.06E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 1.66279E-04 |
| C/G | rs772937665 |
-2.247 | 1.0 | D | 0.866 | 0.734 | 0.867611819263 | gnomAD-4.0.0 | 1.57414E-05 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.06907E-05 | 0 | 0 |
| C/S | rs774245300 |
-1.985 | 1.0 | D | 0.817 | 0.724 | 0.814495342469 | gnomAD-2.1.1 | 2.86E-05 | None | None | disulfide | None | N | None | 3.30633E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs774245300 |
-1.985 | 1.0 | D | 0.817 | 0.724 | 0.814495342469 | gnomAD-3.1.2 | 5.92E-05 | None | None | disulfide | None | N | None | 2.1715E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs774245300 |
-1.985 | 1.0 | D | 0.817 | 0.724 | 0.814495342469 | gnomAD-4.0.0 | 8.6783E-06 | None | None | disulfide | None | N | None | 1.73569E-04 | 0 | None | 0 | 0 | None | 0 | 1.64582E-04 | 0 | 0 | 0 |
| C/Y | rs774245300 |
None | 1.0 | D | 0.887 | 0.581 | 0.840231561563 | gnomAD-4.0.0 | 6.84402E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99593E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8649 | likely_pathogenic | 0.8901 | pathogenic | -1.64 | Destabilizing | 0.998 | D | 0.7 | prob.neutral | None | None | disulfide | None | N |
| C/D | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -1.663 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8694 | likely_pathogenic | 0.8981 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.698202792 | disulfide | None | N |
| C/G | 0.8194 | likely_pathogenic | 0.849 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.799557457 | disulfide | None | N |
| C/H | 0.9961 | likely_pathogenic | 0.9971 | pathogenic | -2.222 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8853 | likely_pathogenic | 0.9125 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8457 | likely_pathogenic | 0.8825 | pathogenic | -0.685 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9521 | likely_pathogenic | 0.9651 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9949 | likely_pathogenic | 0.9958 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9977 | likely_pathogenic | 0.9985 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9899 | likely_pathogenic | 0.9931 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.799557457 | disulfide | None | N |
| C/S | 0.9322 | likely_pathogenic | 0.9479 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.799557457 | disulfide | None | N |
| C/T | 0.9586 | likely_pathogenic | 0.9681 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7572 | likely_pathogenic | 0.7962 | pathogenic | -0.983 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9828 | likely_pathogenic | 0.989 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.799557457 | disulfide | None | N |
| C/Y | 0.9638 | likely_pathogenic | 0.9735 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.700904163 | disulfide | 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.