Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7675 | 23248;23249;23250 | chr2:178720996;178720995;178720994 | chr2:179585723;179585722;179585721 |
| N2AB | 7358 | 22297;22298;22299 | chr2:178720996;178720995;178720994 | chr2:179585723;179585722;179585721 |
| N2A | 6431 | 19516;19517;19518 | chr2:178720996;178720995;178720994 | chr2:179585723;179585722;179585721 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | None | None | 1.0 | D | 0.873 | 0.79 | 0.862342405572 | gnomAD-4.0.0 | 3.18931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73444E-06 | 0 | 0 |
| D/N | rs552951988  |
-0.735 | 1.0 | D | 0.805 | 0.567 | 0.651334235377 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| D/N | rs552951988 |
-0.735 | 1.0 | D | 0.805 | 0.567 | 0.651334235377 | gnomAD-4.0.0 | 5.47706E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.28117E-05 | 0 |
| D/Y | rs552951988 |
0.339 | 1.0 | D | 0.899 | 0.567 | 0.895285619443 | gnomAD-2.1.1 | 1.23319E-03 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.1114E-02 | None | 0 | 0 | 7.02839E-04 |
| D/Y | rs552951988 |
0.339 | 1.0 | D | 0.899 | 0.567 | 0.895285619443 | gnomAD-3.1.2 | 3.61476E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.13777E-02 | 0 |
| D/Y | rs552951988 |
0.339 | 1.0 | D | 0.899 | 0.567 | 0.895285619443 | 1000 genomes | 2.19649E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1.12E-02 | None |
| D/Y | rs552951988 |
0.339 | 1.0 | D | 0.899 | 0.567 | 0.895285619443 | gnomAD-4.0.0 | 7.17337E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22955E-05 | None | 0 | 4.95213E-04 | 5.08883E-06 | 1.21284E-02 | 6.88727E-04 |
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 | 0.9448 | likely_pathogenic | 0.9549 | pathogenic | 0.583 | Stabilizing | 1.0 | D | 0.873 | deleterious | D | 0.637604044 | None | None | N |
| D/C | 0.9867 | likely_pathogenic | 0.9904 | pathogenic | 0.581 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| D/E | 0.815 | likely_pathogenic | 0.8391 | pathogenic | -0.494 | Destabilizing | 0.998 | D | 0.591 | neutral | D | 0.580905867 | None | None | N |
| D/F | 0.9836 | likely_pathogenic | 0.9869 | pathogenic | 1.143 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| D/G | 0.9521 | likely_pathogenic | 0.9611 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.824 | deleterious | D | 0.66334396 | None | None | N |
| D/H | 0.935 | likely_pathogenic | 0.9606 | pathogenic | 0.813 | Stabilizing | 1.0 | D | 0.883 | deleterious | D | 0.586234935 | None | None | N |
| D/I | 0.9762 | likely_pathogenic | 0.9757 | pathogenic | 1.899 | Stabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| D/K | 0.9876 | likely_pathogenic | 0.9907 | pathogenic | 0.629 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| D/L | 0.9777 | likely_pathogenic | 0.9791 | pathogenic | 1.899 | Stabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| D/M | 0.9875 | likely_pathogenic | 0.9877 | pathogenic | 2.305 | Highly Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| D/N | 0.7386 | likely_pathogenic | 0.746 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.583984728 | None | None | N |
| D/P | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | 1.491 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/Q | 0.9783 | likely_pathogenic | 0.9834 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| D/R | 0.9911 | likely_pathogenic | 0.9933 | pathogenic | 0.468 | Stabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| D/S | 0.9214 | likely_pathogenic | 0.9275 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/T | 0.9705 | likely_pathogenic | 0.9715 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/V | 0.9389 | likely_pathogenic | 0.9386 | pathogenic | 1.491 | Stabilizing | 1.0 | D | 0.883 | deleterious | D | 0.663747569 | None | None | N |
| D/W | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | 1.133 | Stabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| D/Y | 0.8923 | likely_pathogenic | 0.9099 | pathogenic | 1.449 | Stabilizing | 1.0 | D | 0.899 | deleterious | D | 0.626167256 | 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.