Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18653 | 56182;56183;56184 | chr2:178600947;178600946;178600945 | chr2:179465674;179465673;179465672 |
| N2AB | 17012 | 51259;51260;51261 | chr2:178600947;178600946;178600945 | chr2:179465674;179465673;179465672 |
| N2A | 16085 | 48478;48479;48480 | chr2:178600947;178600946;178600945 | chr2:179465674;179465673;179465672 |
| N2B | 9588 | 28987;28988;28989 | chr2:178600947;178600946;178600945 | chr2:179465674;179465673;179465672 |
| Novex-1 | 9713 | 29362;29363;29364 | chr2:178600947;178600946;178600945 | chr2:179465674;179465673;179465672 |
| Novex-2 | 9780 | 29563;29564;29565 | chr2:178600947;178600946;178600945 | chr2:179465674;179465673;179465672 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs367780800  |
-0.881 | 0.999 | N | 0.824 | 0.323 | 0.495573750707 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 6.4E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/R | rs367780800 |
-0.881 | 0.999 | N | 0.824 | 0.323 | 0.495573750707 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86162E-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 | 0.1092 | likely_benign | 0.0896 | benign | -0.579 | Destabilizing | 0.995 | D | 0.639 | neutral | N | 0.423163054 | None | None | N |
| G/C | 0.1878 | likely_benign | 0.1682 | benign | -0.81 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/D | 0.2456 | likely_benign | 0.1999 | benign | -0.962 | Destabilizing | 0.669 | D | 0.587 | neutral | None | None | None | None | N |
| G/E | 0.1839 | likely_benign | 0.1467 | benign | -0.985 | Destabilizing | 0.997 | D | 0.795 | deleterious | N | 0.424491205 | None | None | N |
| G/F | 0.5446 | ambiguous | 0.4744 | ambiguous | -0.848 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/H | 0.3555 | ambiguous | 0.295 | benign | -1.291 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/I | 0.2704 | likely_benign | 0.2394 | benign | -0.088 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/K | 0.2497 | likely_benign | 0.195 | benign | -1.106 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| G/L | 0.356 | ambiguous | 0.2982 | benign | -0.088 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| G/M | 0.3418 | ambiguous | 0.308 | benign | -0.145 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| G/N | 0.2887 | likely_benign | 0.227 | benign | -0.849 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| G/P | 0.9643 | likely_pathogenic | 0.9423 | pathogenic | -0.208 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| G/Q | 0.2282 | likely_benign | 0.1831 | benign | -0.955 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| G/R | 0.2131 | likely_benign | 0.1668 | benign | -0.888 | Destabilizing | 0.999 | D | 0.824 | deleterious | N | 0.440690022 | None | None | N |
| G/S | 0.1024 | likely_benign | 0.0857 | benign | -1.144 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| G/T | 0.1424 | likely_benign | 0.1233 | benign | -1.072 | Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | N |
| G/V | 0.1907 | likely_benign | 0.1674 | benign | -0.208 | Destabilizing | 0.999 | D | 0.797 | deleterious | N | 0.422413692 | None | None | N |
| G/W | 0.4227 | ambiguous | 0.3746 | ambiguous | -1.292 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.515651927 | None | None | N |
| G/Y | 0.4229 | ambiguous | 0.3653 | ambiguous | -0.812 | Destabilizing | 1.0 | D | 0.794 | 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.