Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2519 | 7780;7781;7782 | chr2:178773501;178773500;178773499 | chr2:179638228;179638227;179638226 |
| N2AB | 2519 | 7780;7781;7782 | chr2:178773501;178773500;178773499 | chr2:179638228;179638227;179638226 |
| N2A | 2519 | 7780;7781;7782 | chr2:178773501;178773500;178773499 | chr2:179638228;179638227;179638226 |
| N2B | 2473 | 7642;7643;7644 | chr2:178773501;178773500;178773499 | chr2:179638228;179638227;179638226 |
| Novex-1 | 2473 | 7642;7643;7644 | chr2:178773501;178773500;178773499 | chr2:179638228;179638227;179638226 |
| Novex-2 | 2473 | 7642;7643;7644 | chr2:178773501;178773500;178773499 | chr2:179638228;179638227;179638226 |
| Novex-3 | 2519 | 7780;7781;7782 | chr2:178773501;178773500;178773499 | chr2:179638228;179638227;179638226 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs372361514  |
-1.515 | 0.939 | N | 0.635 | 0.345 | None | gnomAD-2.1.1 | 2.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.72569E-04 | None | 0 | None | 0 | 1.76E-05 | 0 |
| V/A | rs372361514 |
-1.515 | 0.939 | N | 0.635 | 0.345 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.84763E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs372361514 |
-1.515 | 0.939 | N | 0.635 | 0.345 | None | gnomAD-4.0.0 | 6.19608E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.55999E-04 | None | 0 | 0 | 2.54248E-06 | 0 | 0 |
| V/G | rs372361514 |
None | 0.997 | D | 0.846 | 0.881 | 0.939559954431 | gnomAD-4.0.0 | 6.84115E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99326E-07 | 0 | 0 |
| V/I | rs1435317877 |
-0.365 | 0.046 | D | 0.236 | 0.279 | 0.468834750356 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2498 | likely_benign | 0.237 | benign | -1.907 | Destabilizing | 0.939 | D | 0.635 | neutral | N | 0.448462971 | None | None | N |
| V/C | 0.8342 | likely_pathogenic | 0.8073 | pathogenic | -1.555 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| V/D | 0.9659 | likely_pathogenic | 0.9589 | pathogenic | -2.069 | Highly Destabilizing | 0.997 | D | 0.849 | deleterious | D | 0.67354431 | None | None | N |
| V/E | 0.9429 | likely_pathogenic | 0.9299 | pathogenic | -1.917 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| V/F | 0.4801 | ambiguous | 0.4491 | ambiguous | -1.098 | Destabilizing | 0.982 | D | 0.837 | deleterious | D | 0.524150716 | None | None | N |
| V/G | 0.6431 | likely_pathogenic | 0.6082 | pathogenic | -2.386 | Highly Destabilizing | 0.997 | D | 0.846 | deleterious | D | 0.634393969 | None | None | N |
| V/H | 0.966 | likely_pathogenic | 0.9569 | pathogenic | -2.004 | Highly Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| V/I | 0.0909 | likely_benign | 0.0861 | benign | -0.611 | Destabilizing | 0.046 | N | 0.236 | neutral | D | 0.522443451 | None | None | N |
| V/K | 0.9508 | likely_pathogenic | 0.942 | pathogenic | -1.691 | Destabilizing | 0.993 | D | 0.857 | deleterious | None | None | None | None | N |
| V/L | 0.351 | ambiguous | 0.3219 | benign | -0.611 | Destabilizing | 0.76 | D | 0.593 | neutral | D | 0.523834194 | None | None | N |
| V/M | 0.3298 | likely_benign | 0.3028 | benign | -0.694 | Destabilizing | 0.986 | D | 0.774 | deleterious | None | None | None | None | N |
| V/N | 0.8915 | likely_pathogenic | 0.8761 | pathogenic | -1.806 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| V/P | 0.9621 | likely_pathogenic | 0.9565 | pathogenic | -1.012 | Destabilizing | 0.998 | D | 0.852 | deleterious | None | None | None | None | N |
| V/Q | 0.9183 | likely_pathogenic | 0.9059 | pathogenic | -1.746 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| V/R | 0.9116 | likely_pathogenic | 0.8978 | pathogenic | -1.412 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| V/S | 0.5754 | likely_pathogenic | 0.5481 | ambiguous | -2.446 | Highly Destabilizing | 0.993 | D | 0.851 | deleterious | None | None | None | None | N |
| V/T | 0.3503 | ambiguous | 0.3196 | benign | -2.159 | Highly Destabilizing | 0.953 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/W | 0.9764 | likely_pathogenic | 0.9688 | pathogenic | -1.485 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| V/Y | 0.911 | likely_pathogenic | 0.8964 | pathogenic | -1.136 | Destabilizing | 0.998 | D | 0.823 | 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.