Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18885 | 56878;56879;56880 | chr2:178599057;178599056;178599055 | chr2:179463784;179463783;179463782 |
| N2AB | 17244 | 51955;51956;51957 | chr2:178599057;178599056;178599055 | chr2:179463784;179463783;179463782 |
| N2A | 16317 | 49174;49175;49176 | chr2:178599057;178599056;178599055 | chr2:179463784;179463783;179463782 |
| N2B | 9820 | 29683;29684;29685 | chr2:178599057;178599056;178599055 | chr2:179463784;179463783;179463782 |
| Novex-1 | 9945 | 30058;30059;30060 | chr2:178599057;178599056;178599055 | chr2:179463784;179463783;179463782 |
| Novex-2 | 10012 | 30259;30260;30261 | chr2:178599057;178599056;178599055 | chr2:179463784;179463783;179463782 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs780890752  |
-0.873 | 1.0 | D | 0.824 | 0.551 | None | gnomAD-2.1.1 | 1.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.1E-05 | 0 |
| P/R | rs780890752 |
-0.873 | 1.0 | D | 0.824 | 0.551 | None | gnomAD-4.0.0 | 7.89693E-06 | None | None | None | None | N | None | 6.58762E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.31383E-06 | 0 | 0 |
| P/S | rs747971851 |
-2.006 | 1.0 | D | 0.751 | 0.539 | 0.501183553247 | gnomAD-2.1.1 | 1.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.95E-05 | None | 0 | 0 | 0 |
| P/S | rs747971851 |
-2.006 | 1.0 | D | 0.751 | 0.539 | 0.501183553247 | gnomAD-3.1.2 | 6.6E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs747971851 |
-2.006 | 1.0 | D | 0.751 | 0.539 | 0.501183553247 | gnomAD-4.0.0 | 2.07683E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.9158E-05 | 1.14664E-04 | 1.6913E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8165 | likely_pathogenic | 0.8345 | pathogenic | -1.965 | Destabilizing | 0.999 | D | 0.81 | deleterious | D | 0.528921823 | None | None | N |
| P/C | 0.9857 | likely_pathogenic | 0.9867 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/D | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -2.673 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/E | 0.9956 | likely_pathogenic | 0.9973 | pathogenic | -2.594 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/G | 0.9886 | likely_pathogenic | 0.9903 | pathogenic | -2.325 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/H | 0.9955 | likely_pathogenic | 0.9971 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.556687317 | None | None | N |
| P/I | 0.9938 | likely_pathogenic | 0.9953 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/K | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/L | 0.9679 | likely_pathogenic | 0.9769 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.542796116 | None | None | N |
| P/M | 0.9961 | likely_pathogenic | 0.997 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/Q | 0.9936 | likely_pathogenic | 0.996 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/R | 0.9896 | likely_pathogenic | 0.9932 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.544570543 | None | None | N |
| P/S | 0.9708 | likely_pathogenic | 0.976 | pathogenic | -2.212 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.544317053 | None | None | N |
| P/T | 0.969 | likely_pathogenic | 0.9762 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.555419869 | None | None | N |
| P/V | 0.9789 | likely_pathogenic | 0.9835 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.844 | 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.