Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1634 | 5125;5126;5127 | chr2:178776964;178776963;178776962 | chr2:179641691;179641690;179641689 |
| N2AB | 1634 | 5125;5126;5127 | chr2:178776964;178776963;178776962 | chr2:179641691;179641690;179641689 |
| N2A | 1634 | 5125;5126;5127 | chr2:178776964;178776963;178776962 | chr2:179641691;179641690;179641689 |
| N2B | 1588 | 4987;4988;4989 | chr2:178776964;178776963;178776962 | chr2:179641691;179641690;179641689 |
| Novex-1 | 1588 | 4987;4988;4989 | chr2:178776964;178776963;178776962 | chr2:179641691;179641690;179641689 |
| Novex-2 | 1588 | 4987;4988;4989 | chr2:178776964;178776963;178776962 | chr2:179641691;179641690;179641689 |
| Novex-3 | 1634 | 5125;5126;5127 | chr2:178776964;178776963;178776962 | chr2:179641691;179641690;179641689 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | None | None | 0.999 | D | 0.579 | 0.642 | 0.277730125212 | gnomAD-4.0.0 | 2.05245E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79864E-06 | 1.15972E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9888 | likely_pathogenic | 0.9817 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| N/C | 0.8858 | likely_pathogenic | 0.8544 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| N/D | 0.9869 | likely_pathogenic | 0.9747 | pathogenic | -1.623 | Destabilizing | 0.999 | D | 0.616 | neutral | D | 0.741859636 | None | None | N |
| N/E | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -1.512 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/F | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| N/G | 0.96 | likely_pathogenic | 0.944 | pathogenic | -0.882 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | N |
| N/H | 0.9631 | likely_pathogenic | 0.9499 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.744238548 | None | None | N |
| N/I | 0.9929 | likely_pathogenic | 0.9881 | pathogenic | 0.279 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.709183247 | None | None | N |
| N/K | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.743336032 | None | None | N |
| N/L | 0.9737 | likely_pathogenic | 0.9638 | pathogenic | 0.279 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| N/M | 0.9928 | likely_pathogenic | 0.9894 | pathogenic | 0.725 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/P | 0.9976 | likely_pathogenic | 0.9963 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9969 | likely_pathogenic | 0.9953 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| N/R | 0.9973 | likely_pathogenic | 0.9961 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/S | 0.5174 | ambiguous | 0.4181 | ambiguous | -0.934 | Destabilizing | 0.999 | D | 0.579 | neutral | D | 0.59957074 | None | None | N |
| N/T | 0.9144 | likely_pathogenic | 0.862 | pathogenic | -0.66 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | D | 0.741955789 | None | None | N |
| N/V | 0.9888 | likely_pathogenic | 0.9816 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9933 | likely_pathogenic | 0.9899 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.744238548 | 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.