Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24643 | 74152;74153;74154 | chr2:178572205;178572204;178572203 | chr2:179436932;179436931;179436930 |
| N2AB | 23002 | 69229;69230;69231 | chr2:178572205;178572204;178572203 | chr2:179436932;179436931;179436930 |
| N2A | 22075 | 66448;66449;66450 | chr2:178572205;178572204;178572203 | chr2:179436932;179436931;179436930 |
| N2B | 15578 | 46957;46958;46959 | chr2:178572205;178572204;178572203 | chr2:179436932;179436931;179436930 |
| Novex-1 | 15703 | 47332;47333;47334 | chr2:178572205;178572204;178572203 | chr2:179436932;179436931;179436930 |
| Novex-2 | 15770 | 47533;47534;47535 | chr2:178572205;178572204;178572203 | chr2:179436932;179436931;179436930 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 1.0 | N | 0.7 | 0.388 | 0.398727352345 | gnomAD-4.0.0 | 1.59199E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85925E-06 | 0 | 0 |
| D/Y | rs536049211  |
-0.578 | 1.0 | D | 0.627 | 0.499 | 0.780266563067 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs536049211 |
-0.578 | 1.0 | D | 0.627 | 0.499 | 0.780266563067 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| D/Y | rs536049211 |
-0.578 | 1.0 | D | 0.627 | 0.499 | 0.780266563067 | gnomAD-4.0.0 | 6.5684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93798E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9851 | likely_pathogenic | 0.9821 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.491082882 | None | None | N |
| D/C | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| D/E | 0.9762 | likely_pathogenic | 0.971 | pathogenic | -0.76 | Destabilizing | 0.998 | D | 0.445 | neutral | N | 0.490727261 | None | None | N |
| D/F | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| D/G | 0.9796 | likely_pathogenic | 0.9755 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.517620608 | None | None | N |
| D/H | 0.9876 | likely_pathogenic | 0.9865 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.516860139 | None | None | N |
| D/I | 0.996 | likely_pathogenic | 0.9956 | pathogenic | 0.596 | Stabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| D/K | 0.996 | likely_pathogenic | 0.9957 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| D/L | 0.9899 | likely_pathogenic | 0.9894 | pathogenic | 0.596 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/M | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | 1.06 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| D/N | 0.753 | likely_pathogenic | 0.7406 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.518462946 | None | None | N |
| D/P | 0.9966 | likely_pathogenic | 0.9968 | pathogenic | 0.35 | Stabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| D/Q | 0.9949 | likely_pathogenic | 0.9941 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/R | 0.9943 | likely_pathogenic | 0.9938 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| D/S | 0.9014 | likely_pathogenic | 0.9017 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/T | 0.9674 | likely_pathogenic | 0.969 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/V | 0.9899 | likely_pathogenic | 0.9883 | pathogenic | 0.35 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.504996855 | None | None | N |
| D/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| D/Y | 0.9773 | likely_pathogenic | 0.9755 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.627 | neutral | D | 0.544118654 | 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.