Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2370 | 7333;7334;7335 | chr2:178774060;178774059;178774058 | chr2:179638787;179638786;179638785 |
| N2AB | 2370 | 7333;7334;7335 | chr2:178774060;178774059;178774058 | chr2:179638787;179638786;179638785 |
| N2A | 2370 | 7333;7334;7335 | chr2:178774060;178774059;178774058 | chr2:179638787;179638786;179638785 |
| N2B | 2324 | 7195;7196;7197 | chr2:178774060;178774059;178774058 | chr2:179638787;179638786;179638785 |
| Novex-1 | 2324 | 7195;7196;7197 | chr2:178774060;178774059;178774058 | chr2:179638787;179638786;179638785 |
| Novex-2 | 2324 | 7195;7196;7197 | chr2:178774060;178774059;178774058 | chr2:179638787;179638786;179638785 |
| Novex-3 | 2370 | 7333;7334;7335 | chr2:178774060;178774059;178774058 | chr2:179638787;179638786;179638785 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs767484363  |
-1.106 | 0.996 | D | 0.796 | 0.766 | 0.658271391856 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs752484533 |
-0.533 | 0.663 | D | 0.576 | 0.567 | 0.386721274199 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs752484533 |
-0.533 | 0.663 | D | 0.576 | 0.567 | 0.386721274199 | gnomAD-4.0.0 | 1.59067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6241 | likely_pathogenic | 0.6744 | pathogenic | -0.443 | Destabilizing | 0.969 | D | 0.679 | prob.neutral | D | 0.680631439 | None | None | N |
| G/C | 0.8568 | likely_pathogenic | 0.8854 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.717366844 | None | None | N |
| G/D | 0.727 | likely_pathogenic | 0.7745 | pathogenic | -1.226 | Destabilizing | 0.996 | D | 0.796 | deleterious | D | 0.644296773 | None | None | N |
| G/E | 0.8187 | likely_pathogenic | 0.8604 | pathogenic | -1.4 | Destabilizing | 0.997 | D | 0.8 | deleterious | None | None | None | None | N |
| G/F | 0.9738 | likely_pathogenic | 0.9797 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/H | 0.9134 | likely_pathogenic | 0.9317 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/I | 0.9815 | likely_pathogenic | 0.9885 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/K | 0.918 | likely_pathogenic | 0.93 | pathogenic | -0.963 | Destabilizing | 0.993 | D | 0.803 | deleterious | None | None | None | None | N |
| G/L | 0.9604 | likely_pathogenic | 0.9705 | pathogenic | -0.564 | Destabilizing | 0.997 | D | 0.796 | deleterious | None | None | None | None | N |
| G/M | 0.9538 | likely_pathogenic | 0.9661 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/N | 0.693 | likely_pathogenic | 0.7439 | pathogenic | -0.565 | Destabilizing | 0.993 | D | 0.77 | deleterious | None | None | None | None | N |
| G/P | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -0.491 | Destabilizing | 0.998 | D | 0.814 | deleterious | None | None | None | None | N |
| G/Q | 0.8772 | likely_pathogenic | 0.9042 | pathogenic | -0.955 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | N |
| G/R | 0.8779 | likely_pathogenic | 0.8972 | pathogenic | -0.399 | Destabilizing | 0.996 | D | 0.823 | deleterious | D | 0.612023326 | None | None | N |
| G/S | 0.3817 | ambiguous | 0.4406 | ambiguous | -0.633 | Destabilizing | 0.663 | D | 0.576 | neutral | D | 0.54105308 | None | None | N |
| G/T | 0.712 | likely_pathogenic | 0.772 | pathogenic | -0.761 | Destabilizing | 0.993 | D | 0.787 | deleterious | None | None | None | None | N |
| G/V | 0.9512 | likely_pathogenic | 0.9673 | pathogenic | -0.491 | Destabilizing | 0.996 | D | 0.799 | deleterious | D | 0.71759322 | None | None | N |
| G/W | 0.9272 | likely_pathogenic | 0.9417 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/Y | 0.9338 | likely_pathogenic | 0.9456 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.81 | 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.