Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14933 | 45022;45023;45024 | chr2:178624483;178624482;178624481 | chr2:179489210;179489209;179489208 |
| N2AB | 13292 | 40099;40100;40101 | chr2:178624483;178624482;178624481 | chr2:179489210;179489209;179489208 |
| N2A | 12365 | 37318;37319;37320 | chr2:178624483;178624482;178624481 | chr2:179489210;179489209;179489208 |
| N2B | 5868 | 17827;17828;17829 | chr2:178624483;178624482;178624481 | chr2:179489210;179489209;179489208 |
| Novex-1 | 5993 | 18202;18203;18204 | chr2:178624483;178624482;178624481 | chr2:179489210;179489209;179489208 |
| Novex-2 | 6060 | 18403;18404;18405 | chr2:178624483;178624482;178624481 | chr2:179489210;179489209;179489208 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1238423083  |
-0.275 | 0.984 | N | 0.793 | 0.342 | 0.220303561663 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/R | rs1238423083 |
-0.275 | 0.984 | N | 0.793 | 0.342 | 0.220303561663 | gnomAD-4.0.0 | 1.59414E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43386E-05 | 0 |
| C/Y | None | None | 0.995 | N | 0.751 | 0.22 | 0.384752662912 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.3525 | ambiguous | 0.3464 | ambiguous | -1.171 | Destabilizing | 0.015 | N | 0.288 | neutral | None | None | None | None | N |
| C/D | 0.9876 | likely_pathogenic | 0.9857 | pathogenic | -0.708 | Destabilizing | 0.988 | D | 0.787 | deleterious | None | None | None | None | N |
| C/E | 0.9938 | likely_pathogenic | 0.9946 | pathogenic | -0.625 | Destabilizing | 0.976 | D | 0.782 | deleterious | None | None | None | None | N |
| C/F | 0.8624 | likely_pathogenic | 0.887 | pathogenic | -1.069 | Destabilizing | 0.995 | D | 0.749 | deleterious | N | 0.316496072 | None | None | N |
| C/G | 0.3171 | likely_benign | 0.246 | benign | -1.427 | Destabilizing | 0.811 | D | 0.703 | prob.neutral | N | 0.348505329 | None | None | N |
| C/H | 0.9754 | likely_pathogenic | 0.9715 | pathogenic | -1.871 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| C/I | 0.9372 | likely_pathogenic | 0.9646 | pathogenic | -0.544 | Destabilizing | 0.976 | D | 0.713 | prob.delet. | None | None | None | None | N |
| C/K | 0.9921 | likely_pathogenic | 0.9936 | pathogenic | -0.463 | Destabilizing | 0.976 | D | 0.763 | deleterious | None | None | None | None | N |
| C/L | 0.9067 | likely_pathogenic | 0.9261 | pathogenic | -0.544 | Destabilizing | 0.919 | D | 0.635 | neutral | None | None | None | None | N |
| C/M | 0.947 | likely_pathogenic | 0.9587 | pathogenic | 0.006 | Stabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| C/N | 0.9591 | likely_pathogenic | 0.9494 | pathogenic | -0.549 | Destabilizing | 0.988 | D | 0.799 | deleterious | None | None | None | None | N |
| C/P | 0.9977 | likely_pathogenic | 0.9984 | pathogenic | -0.726 | Destabilizing | 0.988 | D | 0.789 | deleterious | None | None | None | None | N |
| C/Q | 0.9756 | likely_pathogenic | 0.9764 | pathogenic | -0.548 | Destabilizing | 0.988 | D | 0.795 | deleterious | None | None | None | None | N |
| C/R | 0.9338 | likely_pathogenic | 0.9443 | pathogenic | -0.51 | Destabilizing | 0.984 | D | 0.793 | deleterious | N | 0.361459355 | None | None | N |
| C/S | 0.4922 | ambiguous | 0.4306 | ambiguous | -0.889 | Destabilizing | 0.811 | D | 0.631 | neutral | N | 0.339369634 | None | None | N |
| C/T | 0.7663 | likely_pathogenic | 0.7919 | pathogenic | -0.642 | Destabilizing | 0.919 | D | 0.662 | neutral | None | None | None | None | N |
| C/V | 0.8195 | likely_pathogenic | 0.8814 | pathogenic | -0.726 | Destabilizing | 0.851 | D | 0.624 | neutral | None | None | None | None | N |
| C/W | 0.9789 | likely_pathogenic | 0.9815 | pathogenic | -1.209 | Destabilizing | 0.999 | D | 0.753 | deleterious | N | 0.398726364 | None | None | N |
| C/Y | 0.9398 | likely_pathogenic | 0.9431 | pathogenic | -0.995 | Destabilizing | 0.995 | D | 0.751 | deleterious | N | 0.39699591 | 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.