Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3142 | 9649;9650;9651 | chr2:178767806;178767805;178767804 | chr2:179632533;179632532;179632531 |
| N2AB | 3142 | 9649;9650;9651 | chr2:178767806;178767805;178767804 | chr2:179632533;179632532;179632531 |
| N2A | 3142 | 9649;9650;9651 | chr2:178767806;178767805;178767804 | chr2:179632533;179632532;179632531 |
| N2B | 3096 | 9511;9512;9513 | chr2:178767806;178767805;178767804 | chr2:179632533;179632532;179632531 |
| Novex-1 | 3096 | 9511;9512;9513 | chr2:178767806;178767805;178767804 | chr2:179632533;179632532;179632531 |
| Novex-2 | 3096 | 9511;9512;9513 | chr2:178767806;178767805;178767804 | chr2:179632533;179632532;179632531 |
| Novex-3 | 3142 | 9649;9650;9651 | chr2:178767806;178767805;178767804 | chr2:179632533;179632532;179632531 |
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/G | rs1165830952  |
-2.75 | 1.0 | D | 0.743 | 0.655 | 0.56380075071 | 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 |
| V/G | rs1165830952 |
-2.75 | 1.0 | D | 0.743 | 0.655 | 0.56380075071 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85654E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9403 | likely_pathogenic | 0.9513 | pathogenic | -2.055 | Highly Destabilizing | 0.998 | D | 0.525 | neutral | D | 0.584108924 | None | None | N |
| V/C | 0.9888 | likely_pathogenic | 0.9908 | pathogenic | -1.66 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| V/D | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.756 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| V/E | 0.9961 | likely_pathogenic | 0.9973 | pathogenic | -2.678 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.58628127 | None | None | N |
| V/F | 0.9811 | likely_pathogenic | 0.9872 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| V/G | 0.9802 | likely_pathogenic | 0.9832 | pathogenic | -2.438 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.58628127 | None | None | N |
| V/H | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| V/I | 0.1957 | likely_benign | 0.2075 | benign | -1.04 | Destabilizing | 0.767 | D | 0.301 | neutral | N | 0.410650758 | None | None | N |
| V/K | 0.9969 | likely_pathogenic | 0.9981 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| V/L | 0.8924 | likely_pathogenic | 0.9212 | pathogenic | -1.04 | Destabilizing | 0.981 | D | 0.447 | neutral | N | 0.4669032 | None | None | N |
| V/M | 0.9171 | likely_pathogenic | 0.9593 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| V/N | 0.9972 | likely_pathogenic | 0.9982 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| V/P | 0.9955 | likely_pathogenic | 0.9953 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| V/Q | 0.9954 | likely_pathogenic | 0.9973 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| V/R | 0.992 | likely_pathogenic | 0.9946 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| V/S | 0.9789 | likely_pathogenic | 0.9843 | pathogenic | -2.262 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/T | 0.9052 | likely_pathogenic | 0.9242 | pathogenic | -2.081 | Highly Destabilizing | 0.998 | D | 0.664 | neutral | None | None | None | None | N |
| V/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| V/Y | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.785 | 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.