Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2562 | 7909;7910;7911 | chr2:178773280;178773279;178773278 | chr2:179638007;179638006;179638005 |
| N2AB | 2562 | 7909;7910;7911 | chr2:178773280;178773279;178773278 | chr2:179638007;179638006;179638005 |
| N2A | 2562 | 7909;7910;7911 | chr2:178773280;178773279;178773278 | chr2:179638007;179638006;179638005 |
| N2B | 2516 | 7771;7772;7773 | chr2:178773280;178773279;178773278 | chr2:179638007;179638006;179638005 |
| Novex-1 | 2516 | 7771;7772;7773 | chr2:178773280;178773279;178773278 | chr2:179638007;179638006;179638005 |
| Novex-2 | 2516 | 7771;7772;7773 | chr2:178773280;178773279;178773278 | chr2:179638007;179638006;179638005 |
| Novex-3 | 2562 | 7909;7910;7911 | chr2:178773280;178773279;178773278 | chr2:179638007;179638006;179638005 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.767 | N | 0.3 | 0.194 | 0.304760801415 | gnomAD-4.0.0 | 1.59088E-06 | None | None | None | None | N | None | 0 | 2.2876E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs2091799786  |
None | 0.998 | D | 0.725 | 0.754 | 0.423954403188 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2945 | likely_benign | 0.287 | benign | 0.058 | Stabilizing | 0.999 | D | 0.683 | prob.neutral | D | 0.558973024 | None | None | N |
| D/C | 0.8256 | likely_pathogenic | 0.8141 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/E | 0.275 | likely_benign | 0.2743 | benign | -0.305 | Destabilizing | 0.767 | D | 0.3 | neutral | N | 0.497247433 | None | None | N |
| D/F | 0.8533 | likely_pathogenic | 0.8296 | pathogenic | 0.104 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| D/G | 0.3552 | ambiguous | 0.3505 | ambiguous | -0.087 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | D | 0.586303964 | None | None | N |
| D/H | 0.4715 | ambiguous | 0.4573 | ambiguous | 0.708 | Stabilizing | 1.0 | D | 0.749 | deleterious | N | 0.506492308 | None | None | N |
| D/I | 0.6994 | likely_pathogenic | 0.6546 | pathogenic | 0.379 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/K | 0.6133 | likely_pathogenic | 0.5762 | pathogenic | 0.438 | Stabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| D/L | 0.662 | likely_pathogenic | 0.6279 | pathogenic | 0.379 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/M | 0.8524 | likely_pathogenic | 0.8337 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/N | 0.1656 | likely_benign | 0.158 | benign | 0.037 | Stabilizing | 0.999 | D | 0.691 | prob.neutral | D | 0.530215558 | None | None | N |
| D/P | 0.6888 | likely_pathogenic | 0.6918 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| D/Q | 0.5453 | ambiguous | 0.5312 | ambiguous | 0.078 | Stabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/R | 0.6354 | likely_pathogenic | 0.6097 | pathogenic | 0.73 | Stabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| D/S | 0.2065 | likely_benign | 0.1974 | benign | -0.023 | Destabilizing | 0.997 | D | 0.669 | neutral | None | None | None | None | N |
| D/T | 0.413 | ambiguous | 0.3941 | ambiguous | 0.104 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/V | 0.4642 | ambiguous | 0.4243 | ambiguous | 0.293 | Stabilizing | 0.999 | D | 0.776 | deleterious | N | 0.509793035 | None | None | N |
| D/W | 0.9647 | likely_pathogenic | 0.9597 | pathogenic | 0.173 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/Y | 0.4744 | ambiguous | 0.4361 | ambiguous | 0.338 | Stabilizing | 1.0 | D | 0.764 | deleterious | D | 0.628641887 | 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.