Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22617 | 68074;68075;68076 | chr2:178579181;178579180;178579179 | chr2:179443908;179443907;179443906 |
| N2AB | 20976 | 63151;63152;63153 | chr2:178579181;178579180;178579179 | chr2:179443908;179443907;179443906 |
| N2A | 20049 | 60370;60371;60372 | chr2:178579181;178579180;178579179 | chr2:179443908;179443907;179443906 |
| N2B | 13552 | 40879;40880;40881 | chr2:178579181;178579180;178579179 | chr2:179443908;179443907;179443906 |
| Novex-1 | 13677 | 41254;41255;41256 | chr2:178579181;178579180;178579179 | chr2:179443908;179443907;179443906 |
| Novex-2 | 13744 | 41455;41456;41457 | chr2:178579181;178579180;178579179 | chr2:179443908;179443907;179443906 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | None | None | 1.0 | D | 0.858 | 0.685 | 0.729913700919 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85945E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9707 | likely_pathogenic | 0.9632 | pathogenic | 0.403 | Stabilizing | 1.0 | D | 0.864 | deleterious | D | 0.619495201 | None | None | N |
| D/C | 0.9874 | likely_pathogenic | 0.9851 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| D/E | 0.9267 | likely_pathogenic | 0.9174 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.608765625 | None | None | N |
| D/F | 0.9901 | likely_pathogenic | 0.9892 | pathogenic | 1.059 | Stabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| D/G | 0.9788 | likely_pathogenic | 0.9752 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.635716367 | None | None | N |
| D/H | 0.9091 | likely_pathogenic | 0.8906 | pathogenic | 0.678 | Stabilizing | 1.0 | D | 0.858 | deleterious | D | 0.580198655 | None | None | N |
| D/I | 0.9905 | likely_pathogenic | 0.9876 | pathogenic | 1.654 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| D/K | 0.9896 | likely_pathogenic | 0.9864 | pathogenic | 0.256 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/L | 0.9836 | likely_pathogenic | 0.9799 | pathogenic | 1.654 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| D/M | 0.9945 | likely_pathogenic | 0.993 | pathogenic | 2.005 | Highly Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/N | 0.8314 | likely_pathogenic | 0.787 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.608362017 | None | None | N |
| D/P | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | 1.267 | Stabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| D/Q | 0.9815 | likely_pathogenic | 0.9752 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/R | 0.9895 | likely_pathogenic | 0.9866 | pathogenic | 0.27 | Stabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| D/S | 0.9258 | likely_pathogenic | 0.9088 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/T | 0.9811 | likely_pathogenic | 0.9762 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/V | 0.9712 | likely_pathogenic | 0.9644 | pathogenic | 1.267 | Stabilizing | 1.0 | D | 0.877 | deleterious | D | 0.636119975 | None | None | N |
| D/W | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | 1.106 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/Y | 0.9377 | likely_pathogenic | 0.9289 | pathogenic | 1.334 | Stabilizing | 1.0 | D | 0.889 | deleterious | D | 0.635918171 | 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.