Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9324 | 28195;28196;28197 | chr2:178711266;178711265;178711264 | chr2:179575993;179575992;179575991 |
| N2AB | 9007 | 27244;27245;27246 | chr2:178711266;178711265;178711264 | chr2:179575993;179575992;179575991 |
| N2A | 8080 | 24463;24464;24465 | chr2:178711266;178711265;178711264 | chr2:179575993;179575992;179575991 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | 0.025 | None | 0.409 | 0.211 | 0.0716867268079 | gnomAD-4.0.0 | 6.8422E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-05 | 0 |
| I/M | None | None | 0.497 | None | 0.727 | 0.272 | 0.284539287134 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| I/T | rs761548797  |
-2.604 | 0.124 | None | 0.738 | 0.292 | 0.647371783203 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| I/T | rs761548797 |
-2.604 | 0.124 | None | 0.738 | 0.292 | 0.647371783203 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85835E-06 | 0 | 0 |
| I/V | rs765190829 |
-1.515 | None | None | 0.243 | 0.135 | 0.0806252709748 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| I/V | rs765190829 |
-1.515 | None | None | 0.243 | 0.135 | 0.0806252709748 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs765190829 |
-1.515 | None | None | 0.243 | 0.135 | 0.0806252709748 | gnomAD-4.0.0 | 6.81668E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32388E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8333 | likely_pathogenic | 0.8589 | pathogenic | -2.559 | Highly Destabilizing | 0.072 | N | 0.705 | prob.neutral | None | None | None | None | N |
| I/C | 0.9433 | likely_pathogenic | 0.9551 | pathogenic | -2.505 | Highly Destabilizing | 0.909 | D | 0.791 | deleterious | None | None | None | None | N |
| I/D | 0.9952 | likely_pathogenic | 0.9974 | pathogenic | -2.359 | Highly Destabilizing | 0.726 | D | 0.867 | deleterious | None | None | None | None | N |
| I/E | 0.9884 | likely_pathogenic | 0.9927 | pathogenic | -2.155 | Highly Destabilizing | 0.726 | D | 0.863 | deleterious | None | None | None | None | N |
| I/F | 0.3901 | ambiguous | 0.4883 | ambiguous | -1.712 | Destabilizing | 0.567 | D | 0.761 | deleterious | None | None | None | None | N |
| I/G | 0.9765 | likely_pathogenic | 0.9842 | pathogenic | -3.078 | Highly Destabilizing | 0.726 | D | 0.843 | deleterious | None | None | None | None | N |
| I/H | 0.9796 | likely_pathogenic | 0.9882 | pathogenic | -2.428 | Highly Destabilizing | 0.968 | D | 0.852 | deleterious | None | None | None | None | N |
| I/K | 0.9738 | likely_pathogenic | 0.9855 | pathogenic | -1.832 | Destabilizing | 0.667 | D | 0.865 | deleterious | None | None | None | None | N |
| I/L | 0.1479 | likely_benign | 0.1564 | benign | -1.066 | Destabilizing | 0.025 | N | 0.409 | neutral | None | None | None | None | N |
| I/M | 0.2816 | likely_benign | 0.3129 | benign | -1.333 | Destabilizing | 0.497 | N | 0.727 | prob.delet. | None | None | None | None | N |
| I/N | 0.9446 | likely_pathogenic | 0.9675 | pathogenic | -2.11 | Highly Destabilizing | 0.89 | D | 0.869 | deleterious | None | None | None | None | N |
| I/P | 0.975 | likely_pathogenic | 0.9843 | pathogenic | -1.544 | Destabilizing | 0.89 | D | 0.866 | deleterious | None | None | None | None | N |
| I/Q | 0.9751 | likely_pathogenic | 0.9854 | pathogenic | -2.012 | Highly Destabilizing | 0.89 | D | 0.863 | deleterious | None | None | None | None | N |
| I/R | 0.9559 | likely_pathogenic | 0.9765 | pathogenic | -1.573 | Destabilizing | 0.667 | D | 0.868 | deleterious | None | None | None | None | N |
| I/S | 0.9099 | likely_pathogenic | 0.9414 | pathogenic | -2.957 | Highly Destabilizing | 0.567 | D | 0.824 | deleterious | None | None | None | None | N |
| I/T | 0.8528 | likely_pathogenic | 0.8817 | pathogenic | -2.595 | Highly Destabilizing | 0.124 | N | 0.738 | prob.delet. | None | None | None | None | N |
| I/V | 0.0823 | likely_benign | 0.0813 | benign | -1.544 | Destabilizing | None | N | 0.243 | neutral | None | None | None | None | N |
| I/W | 0.9831 | likely_pathogenic | 0.9916 | pathogenic | -1.9 | Destabilizing | 0.968 | D | 0.845 | deleterious | None | None | None | None | N |
| I/Y | 0.9147 | likely_pathogenic | 0.9471 | pathogenic | -1.665 | Destabilizing | 0.726 | D | 0.816 | 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.