Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22452 | 67579;67580;67581 | chr2:178579843;178579842;178579841 | chr2:179444570;179444569;179444568 |
| N2AB | 20811 | 62656;62657;62658 | chr2:178579843;178579842;178579841 | chr2:179444570;179444569;179444568 |
| N2A | 19884 | 59875;59876;59877 | chr2:178579843;178579842;178579841 | chr2:179444570;179444569;179444568 |
| N2B | 13387 | 40384;40385;40386 | chr2:178579843;178579842;178579841 | chr2:179444570;179444569;179444568 |
| Novex-1 | 13512 | 40759;40760;40761 | chr2:178579843;178579842;178579841 | chr2:179444570;179444569;179444568 |
| Novex-2 | 13579 | 40960;40961;40962 | chr2:178579843;178579842;178579841 | chr2:179444570;179444569;179444568 |
| 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/A | rs760822987  |
-1.051 | 0.999 | N | 0.821 | 0.634 | 0.417586769301 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67766E-04 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs760822987 |
-1.051 | 0.999 | N | 0.821 | 0.634 | 0.417586769301 | gnomAD-4.0.0 | 2.05388E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.56659E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/H | rs775911087 |
-0.907 | 1.0 | D | 0.783 | 0.69 | 0.53974568202 | gnomAD-2.1.1 | 2.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79705E-04 | None | 0 | None | 0 | 0 | 0 |
| P/H | rs775911087 |
-0.907 | 1.0 | D | 0.783 | 0.69 | 0.53974568202 | gnomAD-4.0.0 | 5.57717E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.71736E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs760822987 |
-1.886 | 1.0 | D | 0.775 | 0.623 | 0.434606191737 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.02E-06 | 0 |
| P/S | rs760822987 |
-1.886 | 1.0 | D | 0.775 | 0.623 | 0.434606191737 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs760822987 |
-1.886 | 1.0 | D | 0.775 | 0.623 | 0.434606191737 | gnomAD-4.0.0 | 1.4262E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.86537E-05 | 0 | 1.60267E-05 |
| P/T | None | -1.772 | 1.0 | D | 0.783 | 0.657 | 0.471292358255 | gnomAD-2.1.1 | 2.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79611E-04 | None | 0 | None | 0 | 0 | 0 |
| P/T | None | -1.772 | 1.0 | D | 0.783 | 0.657 | 0.471292358255 | gnomAD-4.0.0 | 2.39619E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.82768E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.786 | likely_pathogenic | 0.7518 | pathogenic | -0.801 | Destabilizing | 0.999 | D | 0.821 | deleterious | N | 0.520857201 | None | None | N |
| P/C | 0.9876 | likely_pathogenic | 0.9828 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -2.767 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/E | 0.9962 | likely_pathogenic | 0.9968 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/G | 0.9886 | likely_pathogenic | 0.9884 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/H | 0.9961 | likely_pathogenic | 0.9962 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.545001843 | None | None | N |
| P/I | 0.9879 | likely_pathogenic | 0.9842 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/K | 0.9969 | likely_pathogenic | 0.9972 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/L | 0.9686 | likely_pathogenic | 0.9595 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.542466948 | None | None | N |
| P/M | 0.9953 | likely_pathogenic | 0.9937 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/N | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Q | 0.9939 | likely_pathogenic | 0.9939 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/R | 0.9879 | likely_pathogenic | 0.9896 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.544241375 | None | None | N |
| P/S | 0.9731 | likely_pathogenic | 0.9686 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.53263158 | None | None | N |
| P/T | 0.9603 | likely_pathogenic | 0.955 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.53237809 | None | None | N |
| P/V | 0.9596 | likely_pathogenic | 0.949 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.848 | 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.