Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30693 | 92302;92303;92304 | chr2:178549645;178549644;178549643 | chr2:179414372;179414371;179414370 |
| N2AB | 29052 | 87379;87380;87381 | chr2:178549645;178549644;178549643 | chr2:179414372;179414371;179414370 |
| N2A | 28125 | 84598;84599;84600 | chr2:178549645;178549644;178549643 | chr2:179414372;179414371;179414370 |
| N2B | 21628 | 65107;65108;65109 | chr2:178549645;178549644;178549643 | chr2:179414372;179414371;179414370 |
| Novex-1 | 21753 | 65482;65483;65484 | chr2:178549645;178549644;178549643 | chr2:179414372;179414371;179414370 |
| Novex-2 | 21820 | 65683;65684;65685 | chr2:178549645;178549644;178549643 | chr2:179414372;179414371;179414370 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs375375389  |
-1.467 | 1.0 | D | 0.805 | 0.669 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/C | rs375375389 |
-1.467 | 1.0 | D | 0.805 | 0.669 | None | gnomAD-4.0.0 | 2.0527E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.799E-06 | 0 | 1.65667E-05 |
| R/H | rs776331056 |
-2.216 | 1.0 | D | 0.817 | 0.711 | 0.572106025898 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11433E-04 | None | 0 | None | 0 | 0 | 0 |
| R/H | rs776331056 |
-2.216 | 1.0 | D | 0.817 | 0.711 | 0.572106025898 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/H | rs776331056 |
-2.216 | 1.0 | D | 0.817 | 0.711 | 0.572106025898 | gnomAD-4.0.0 | 1.23939E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.37883E-05 | 2.22846E-04 | None | 0 | 0 | 3.3905E-06 | 5.48956E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9875 | likely_pathogenic | 0.9814 | pathogenic | -1.688 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| R/C | 0.7333 | likely_pathogenic | 0.6534 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.548148033 | None | None | N |
| R/D | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| R/E | 0.9804 | likely_pathogenic | 0.9764 | pathogenic | -0.591 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | N |
| R/F | 0.9936 | likely_pathogenic | 0.9907 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| R/G | 0.9811 | likely_pathogenic | 0.9767 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.559250849 | None | None | N |
| R/H | 0.5418 | ambiguous | 0.4733 | ambiguous | -1.913 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.559504338 | None | None | N |
| R/I | 0.9773 | likely_pathogenic | 0.9642 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| R/K | 0.5818 | likely_pathogenic | 0.489 | ambiguous | -1.258 | Destabilizing | 0.998 | D | 0.677 | prob.neutral | None | None | None | None | N |
| R/L | 0.9613 | likely_pathogenic | 0.9459 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.541400083 | None | None | N |
| R/M | 0.9793 | likely_pathogenic | 0.9668 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| R/N | 0.9946 | likely_pathogenic | 0.9923 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.559757828 | None | None | N |
| R/Q | 0.5491 | ambiguous | 0.4874 | ambiguous | -1.088 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| R/S | 0.9874 | likely_pathogenic | 0.9833 | pathogenic | -2.089 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.54459918 | None | None | N |
| R/T | 0.9846 | likely_pathogenic | 0.9746 | pathogenic | -1.653 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/V | 0.9832 | likely_pathogenic | 0.9732 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/W | 0.8982 | likely_pathogenic | 0.8882 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| R/Y | 0.9805 | likely_pathogenic | 0.9717 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.831 | 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.