Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27571 | 82936;82937;82938 | chr2:178563421;178563420;178563419 | chr2:179428148;179428147;179428146 |
| N2AB | 25930 | 78013;78014;78015 | chr2:178563421;178563420;178563419 | chr2:179428148;179428147;179428146 |
| N2A | 25003 | 75232;75233;75234 | chr2:178563421;178563420;178563419 | chr2:179428148;179428147;179428146 |
| N2B | 18506 | 55741;55742;55743 | chr2:178563421;178563420;178563419 | chr2:179428148;179428147;179428146 |
| Novex-1 | 18631 | 56116;56117;56118 | chr2:178563421;178563420;178563419 | chr2:179428148;179428147;179428146 |
| Novex-2 | 18698 | 56317;56318;56319 | chr2:178563421;178563420;178563419 | chr2:179428148;179428147;179428146 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.843 | 0.575 | 0.741229347079 | gnomAD-4.0.0 | 1.36851E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82731E-05 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| P/S | None | None | 1.0 | D | 0.795 | 0.531 | None | gnomAD-4.0.0 | 2.05277E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69845E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6847 | likely_pathogenic | 0.6698 | pathogenic | -2.075 | Highly Destabilizing | 0.999 | D | 0.818 | deleterious | D | 0.534046704 | None | None | N |
| P/C | 0.9776 | likely_pathogenic | 0.9779 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.385 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/E | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -3.246 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/F | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/G | 0.9869 | likely_pathogenic | 0.9869 | pathogenic | -2.459 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/H | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -1.868 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/I | 0.9885 | likely_pathogenic | 0.9871 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/K | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/L | 0.9502 | likely_pathogenic | 0.9429 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.533375141 | None | None | N |
| P/M | 0.9936 | likely_pathogenic | 0.9929 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -2.124 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/Q | 0.9937 | likely_pathogenic | 0.9929 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.569129578 | None | None | N |
| P/R | 0.9901 | likely_pathogenic | 0.9887 | pathogenic | -1.436 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.557266294 | None | None | N |
| P/S | 0.9549 | likely_pathogenic | 0.9551 | pathogenic | -2.526 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.541364085 | None | None | N |
| P/T | 0.9555 | likely_pathogenic | 0.9545 | pathogenic | -2.282 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.539162039 | None | None | N |
| P/V | 0.9532 | likely_pathogenic | 0.9514 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.873 | 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.