Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28033 | 84322;84323;84324 | chr2:178562035;178562034;178562033 | chr2:179426762;179426761;179426760 |
| N2AB | 26392 | 79399;79400;79401 | chr2:178562035;178562034;178562033 | chr2:179426762;179426761;179426760 |
| N2A | 25465 | 76618;76619;76620 | chr2:178562035;178562034;178562033 | chr2:179426762;179426761;179426760 |
| N2B | 18968 | 57127;57128;57129 | chr2:178562035;178562034;178562033 | chr2:179426762;179426761;179426760 |
| Novex-1 | 19093 | 57502;57503;57504 | chr2:178562035;178562034;178562033 | chr2:179426762;179426761;179426760 |
| Novex-2 | 19160 | 57703;57704;57705 | chr2:178562035;178562034;178562033 | chr2:179426762;179426761;179426760 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs765843742  |
-1.794 | 1.0 | D | 0.824 | 0.788 | 0.892957069879 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| Y/C | rs765843742 |
-1.794 | 1.0 | D | 0.824 | 0.788 | 0.892957069879 | gnomAD-4.0.0 | 2.0532E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69868E-06 | 0 | 0 |
| Y/F | None | None | 0.999 | D | 0.693 | 0.753 | 0.74761239571 | gnomAD-4.0.0 | 6.84399E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9956E-07 | 0 | 0 |
| Y/S | None | None | 1.0 | D | 0.849 | 0.793 | 0.910466030853 | gnomAD-4.0.0 | 6.84399E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9956E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9942 | likely_pathogenic | 0.9941 | pathogenic | -2.442 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| Y/C | 0.8997 | likely_pathogenic | 0.9077 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.639261352 | None | None | N |
| Y/D | 0.9971 | likely_pathogenic | 0.9977 | pathogenic | -2.967 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.639261352 | None | None | N |
| Y/E | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.725 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/F | 0.2217 | likely_benign | 0.2093 | benign | -0.805 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | D | 0.595251868 | None | None | N |
| Y/G | 0.991 | likely_pathogenic | 0.9909 | pathogenic | -2.905 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| Y/H | 0.9673 | likely_pathogenic | 0.9703 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.639059548 | None | None | N |
| Y/I | 0.9393 | likely_pathogenic | 0.9362 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| Y/K | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.912 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/L | 0.9002 | likely_pathogenic | 0.8898 | pathogenic | -0.917 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| Y/M | 0.9722 | likely_pathogenic | 0.9716 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| Y/N | 0.9869 | likely_pathogenic | 0.9887 | pathogenic | -2.814 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.639261352 | None | None | N |
| Y/P | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| Y/Q | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -2.414 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| Y/R | 0.9916 | likely_pathogenic | 0.9925 | pathogenic | -2.023 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/S | 0.985 | likely_pathogenic | 0.9866 | pathogenic | -3.187 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.639261352 | None | None | N |
| Y/T | 0.993 | likely_pathogenic | 0.993 | pathogenic | -2.797 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/V | 0.897 | likely_pathogenic | 0.895 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| Y/W | 0.6984 | likely_pathogenic | 0.6732 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.782 | 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.