Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31143 | 93652;93653;93654 | chr2:178548199;178548198;178548197 | chr2:179412926;179412925;179412924 |
| N2AB | 29502 | 88729;88730;88731 | chr2:178548199;178548198;178548197 | chr2:179412926;179412925;179412924 |
| N2A | 28575 | 85948;85949;85950 | chr2:178548199;178548198;178548197 | chr2:179412926;179412925;179412924 |
| N2B | 22078 | 66457;66458;66459 | chr2:178548199;178548198;178548197 | chr2:179412926;179412925;179412924 |
| Novex-1 | 22203 | 66832;66833;66834 | chr2:178548199;178548198;178548197 | chr2:179412926;179412925;179412924 |
| Novex-2 | 22270 | 67033;67034;67035 | chr2:178548199;178548198;178548197 | chr2:179412926;179412925;179412924 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs749127573  |
-0.774 | 0.999 | N | 0.709 | 0.306 | 0.323342291347 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/N | rs749127573 |
-0.774 | 0.999 | N | 0.709 | 0.306 | 0.323342291347 | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85802E-06 | 0 | 0 |
| S/R | None | None | 1.0 | N | 0.777 | 0.549 | 0.298403945805 | gnomAD-4.0.0 | 8.21014E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07934E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2387 | likely_benign | 0.2193 | benign | -0.505 | Destabilizing | 0.998 | D | 0.595 | neutral | None | None | None | None | N |
| S/C | 0.2245 | likely_benign | 0.2295 | benign | -0.234 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.479779483 | None | None | N |
| S/D | 0.9688 | likely_pathogenic | 0.9543 | pathogenic | -0.268 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/E | 0.9728 | likely_pathogenic | 0.96 | pathogenic | -0.351 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| S/F | 0.8129 | likely_pathogenic | 0.798 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| S/G | 0.3715 | ambiguous | 0.3318 | benign | -0.648 | Destabilizing | 0.999 | D | 0.579 | neutral | N | 0.464564247 | None | None | N |
| S/H | 0.8639 | likely_pathogenic | 0.8482 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| S/I | 0.8881 | likely_pathogenic | 0.8656 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.492007935 | None | None | N |
| S/K | 0.983 | likely_pathogenic | 0.9799 | pathogenic | -0.636 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| S/L | 0.5429 | ambiguous | 0.4805 | ambiguous | -0.248 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| S/M | 0.71 | likely_pathogenic | 0.6564 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| S/N | 0.755 | likely_pathogenic | 0.7105 | pathogenic | -0.354 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.492007935 | None | None | N |
| S/P | 0.9952 | likely_pathogenic | 0.9939 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| S/Q | 0.9144 | likely_pathogenic | 0.8928 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| S/R | 0.9678 | likely_pathogenic | 0.9612 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.491296692 | None | None | N |
| S/T | 0.3984 | ambiguous | 0.3021 | benign | -0.432 | Destabilizing | 0.999 | D | 0.596 | neutral | N | 0.482208565 | None | None | N |
| S/V | 0.8059 | likely_pathogenic | 0.7568 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| S/W | 0.8982 | likely_pathogenic | 0.8765 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| S/Y | 0.7858 | likely_pathogenic | 0.768 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.811 | 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.