Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 948 | 3067;3068;3069 | chr2:178783064;178783063;178783062 | chr2:179647791;179647790;179647789 |
| N2AB | 948 | 3067;3068;3069 | chr2:178783064;178783063;178783062 | chr2:179647791;179647790;179647789 |
| N2A | 948 | 3067;3068;3069 | chr2:178783064;178783063;178783062 | chr2:179647791;179647790;179647789 |
| N2B | 902 | 2929;2930;2931 | chr2:178783064;178783063;178783062 | chr2:179647791;179647790;179647789 |
| Novex-1 | 902 | 2929;2930;2931 | chr2:178783064;178783063;178783062 | chr2:179647791;179647790;179647789 |
| Novex-2 | 902 | 2929;2930;2931 | chr2:178783064;178783063;178783062 | chr2:179647791;179647790;179647789 |
| Novex-3 | 948 | 3067;3068;3069 | chr2:178783064;178783063;178783062 | chr2:179647791;179647790;179647789 |
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 | rs2092914305  |
None | 0.999 | N | 0.808 | 0.402 | 0.410868550352 | gnomAD-4.0.0 | 2.05237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69808E-06 | 0 | 0 |
| G/S | rs1234047810 |
-0.659 | 0.997 | N | 0.721 | 0.41 | 0.36355261348 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| G/S | rs1234047810 |
-0.659 | 0.997 | N | 0.721 | 0.41 | 0.36355261348 | gnomAD-4.0.0 | 6.15715E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09422E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2439 | likely_benign | 0.3154 | benign | -0.505 | Destabilizing | 0.604 | D | 0.479 | neutral | N | 0.442399647 | None | None | N |
| G/C | 0.6133 | likely_pathogenic | 0.7783 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.514230487 | None | None | N |
| G/D | 0.7083 | likely_pathogenic | 0.8751 | pathogenic | -0.578 | Destabilizing | 0.999 | D | 0.808 | deleterious | N | 0.503066314 | None | None | N |
| G/E | 0.6381 | likely_pathogenic | 0.8244 | pathogenic | -0.725 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| G/F | 0.8951 | likely_pathogenic | 0.945 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/H | 0.8283 | likely_pathogenic | 0.9252 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/I | 0.7128 | likely_pathogenic | 0.8547 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/K | 0.8342 | likely_pathogenic | 0.9302 | pathogenic | -0.939 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| G/L | 0.7975 | likely_pathogenic | 0.8916 | pathogenic | -0.526 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | None | None | N |
| G/M | 0.8404 | likely_pathogenic | 0.918 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/N | 0.7385 | likely_pathogenic | 0.8608 | pathogenic | -0.568 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/P | 0.8513 | likely_pathogenic | 0.8922 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| G/Q | 0.7434 | likely_pathogenic | 0.8676 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/R | 0.6829 | likely_pathogenic | 0.8472 | pathogenic | -0.522 | Destabilizing | 0.999 | D | 0.779 | deleterious | N | 0.40911031 | None | None | N |
| G/S | 0.2069 | likely_benign | 0.313 | benign | -0.764 | Destabilizing | 0.997 | D | 0.721 | prob.delet. | N | 0.460989438 | None | None | N |
| G/T | 0.4694 | ambiguous | 0.6384 | pathogenic | -0.841 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| G/V | 0.5363 | ambiguous | 0.7202 | pathogenic | -0.484 | Destabilizing | 0.997 | D | 0.788 | deleterious | N | 0.451445353 | None | None | N |
| G/W | 0.8326 | likely_pathogenic | 0.9249 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/Y | 0.8326 | likely_pathogenic | 0.9207 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.784 | 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.