Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26851 | 80776;80777;80778 | chr2:178565581;178565580;178565579 | chr2:179430308;179430307;179430306 |
| N2AB | 25210 | 75853;75854;75855 | chr2:178565581;178565580;178565579 | chr2:179430308;179430307;179430306 |
| N2A | 24283 | 73072;73073;73074 | chr2:178565581;178565580;178565579 | chr2:179430308;179430307;179430306 |
| N2B | 17786 | 53581;53582;53583 | chr2:178565581;178565580;178565579 | chr2:179430308;179430307;179430306 |
| Novex-1 | 17911 | 53956;53957;53958 | chr2:178565581;178565580;178565579 | chr2:179430308;179430307;179430306 |
| Novex-2 | 17978 | 54157;54158;54159 | chr2:178565581;178565580;178565579 | chr2:179430308;179430307;179430306 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.668 | N | 0.349 | 0.564 | 0.477451190609 | gnomAD-4.0.0 | 6.84278E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99559E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -2.579 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/C | 0.9841 | likely_pathogenic | 0.9848 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.555531547 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.672 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.444 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/G | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -3.016 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| F/H | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/I | 0.9098 | likely_pathogenic | 0.8952 | pathogenic | -1.136 | Destabilizing | 0.997 | D | 0.722 | prob.delet. | N | 0.481158608 | None | None | N |
| F/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.43 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/L | 0.9872 | likely_pathogenic | 0.9852 | pathogenic | -1.136 | Destabilizing | 0.668 | D | 0.349 | neutral | N | 0.497567797 | None | None | N |
| F/M | 0.9636 | likely_pathogenic | 0.9639 | pathogenic | -0.836 | Destabilizing | 0.946 | D | 0.711 | prob.delet. | None | None | None | None | N |
| F/N | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -3.147 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| F/Q | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.973 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/R | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/S | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -3.564 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.555531547 | None | None | N |
| F/T | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -3.214 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/V | 0.9427 | likely_pathogenic | 0.9376 | pathogenic | -1.631 | Destabilizing | 0.996 | D | 0.79 | deleterious | N | 0.486737561 | None | None | N |
| F/W | 0.9254 | likely_pathogenic | 0.9281 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| F/Y | 0.6527 | likely_pathogenic | 0.651 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.507522205 | 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.