Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2726 | 8401;8402;8403 | chr2:178770616;178770615;178770614 | chr2:179635343;179635342;179635341 |
| N2AB | 2726 | 8401;8402;8403 | chr2:178770616;178770615;178770614 | chr2:179635343;179635342;179635341 |
| N2A | 2726 | 8401;8402;8403 | chr2:178770616;178770615;178770614 | chr2:179635343;179635342;179635341 |
| N2B | 2680 | 8263;8264;8265 | chr2:178770616;178770615;178770614 | chr2:179635343;179635342;179635341 |
| Novex-1 | 2680 | 8263;8264;8265 | chr2:178770616;178770615;178770614 | chr2:179635343;179635342;179635341 |
| Novex-2 | 2680 | 8263;8264;8265 | chr2:178770616;178770615;178770614 | chr2:179635343;179635342;179635341 |
| Novex-3 | 2726 | 8401;8402;8403 | chr2:178770616;178770615;178770614 | chr2:179635343;179635342;179635341 |
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 | 0.999 | N | 0.682 | 0.731 | 0.473300991676 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.995 | likely_pathogenic | 0.9957 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/C | 0.9719 | likely_pathogenic | 0.9794 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.735811466 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/G | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -2.123 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/H | 0.9955 | likely_pathogenic | 0.9965 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/I | 0.8884 | likely_pathogenic | 0.8985 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.718191171 | None | None | N |
| F/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.454 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/L | 0.9671 | likely_pathogenic | 0.9711 | pathogenic | -0.257 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | N | 0.494212755 | None | None | N |
| F/M | 0.9275 | likely_pathogenic | 0.9341 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| F/N | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/Q | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/R | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/S | 0.9969 | likely_pathogenic | 0.9977 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.735811466 | None | None | N |
| F/T | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -2.252 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/V | 0.9244 | likely_pathogenic | 0.9328 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.71956775 | None | None | N |
| F/W | 0.9655 | likely_pathogenic | 0.9651 | pathogenic | 0.397 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| F/Y | 0.7915 | likely_pathogenic | 0.8144 | pathogenic | 0.086 | Stabilizing | 0.999 | D | 0.599 | neutral | D | 0.698029083 | 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.