Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2339 | 7240;7241;7242 | chr2:178774249;178774248;178774247 | chr2:179638976;179638975;179638974 |
| N2AB | 2339 | 7240;7241;7242 | chr2:178774249;178774248;178774247 | chr2:179638976;179638975;179638974 |
| N2A | 2339 | 7240;7241;7242 | chr2:178774249;178774248;178774247 | chr2:179638976;179638975;179638974 |
| N2B | 2293 | 7102;7103;7104 | chr2:178774249;178774248;178774247 | chr2:179638976;179638975;179638974 |
| Novex-1 | 2293 | 7102;7103;7104 | chr2:178774249;178774248;178774247 | chr2:179638976;179638975;179638974 |
| Novex-2 | 2293 | 7102;7103;7104 | chr2:178774249;178774248;178774247 | chr2:179638976;179638975;179638974 |
| Novex-3 | 2339 | 7240;7241;7242 | chr2:178774249;178774248;178774247 | chr2:179638976;179638975;179638974 |
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/L | rs964493112  |
-0.028 | 0.835 | D | 0.59 | 0.352 | 0.608796909167 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs964493112 |
-0.028 | 0.835 | D | 0.59 | 0.352 | 0.608796909167 | gnomAD-4.0.0 | 1.59059E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 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 | 0.202 | likely_benign | 0.2201 | benign | -1.337 | Destabilizing | 0.91 | D | 0.621 | neutral | N | 0.503060384 | None | None | N |
| V/C | 0.7207 | likely_pathogenic | 0.7422 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| V/D | 0.3618 | ambiguous | 0.3649 | ambiguous | -1.199 | Destabilizing | 0.977 | D | 0.746 | deleterious | N | 0.514528051 | None | None | N |
| V/E | 0.2159 | likely_benign | 0.2201 | benign | -1.025 | Destabilizing | 0.503 | D | 0.552 | neutral | None | None | None | None | N |
| V/F | 0.1723 | likely_benign | 0.1743 | benign | -0.718 | Destabilizing | 0.994 | D | 0.682 | prob.neutral | D | 0.605136791 | None | None | N |
| V/G | 0.3559 | ambiguous | 0.3555 | ambiguous | -1.822 | Destabilizing | 0.994 | D | 0.745 | deleterious | D | 0.578442351 | None | None | N |
| V/H | 0.4815 | ambiguous | 0.4983 | ambiguous | -1.59 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| V/I | 0.0732 | likely_benign | 0.0723 | benign | -0.029 | Destabilizing | 0.248 | N | 0.362 | neutral | N | 0.511456543 | None | None | N |
| V/K | 0.33 | likely_benign | 0.3311 | benign | -0.826 | Destabilizing | 0.503 | D | 0.549 | neutral | None | None | None | None | N |
| V/L | 0.1662 | likely_benign | 0.1692 | benign | -0.029 | Destabilizing | 0.835 | D | 0.59 | neutral | D | 0.643573714 | None | None | N |
| V/M | 0.1274 | likely_benign | 0.1295 | benign | -0.087 | Destabilizing | 0.996 | D | 0.622 | neutral | None | None | None | None | N |
| V/N | 0.2784 | likely_benign | 0.2874 | benign | -0.973 | Destabilizing | 0.996 | D | 0.788 | deleterious | None | None | None | None | N |
| V/P | 0.9663 | likely_pathogenic | 0.967 | pathogenic | -0.434 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| V/Q | 0.2635 | likely_benign | 0.275 | benign | -0.845 | Destabilizing | 0.991 | D | 0.759 | deleterious | None | None | None | None | N |
| V/R | 0.313 | likely_benign | 0.3182 | benign | -0.776 | Destabilizing | 0.983 | D | 0.785 | deleterious | None | None | None | None | N |
| V/S | 0.2056 | likely_benign | 0.2222 | benign | -1.641 | Destabilizing | 0.97 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/T | 0.1777 | likely_benign | 0.1865 | benign | -1.328 | Destabilizing | 0.985 | D | 0.597 | neutral | None | None | None | None | N |
| V/W | 0.8094 | likely_pathogenic | 0.8121 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| V/Y | 0.5024 | ambiguous | 0.531 | ambiguous | -0.718 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | 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.