Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22217 | 66874;66875;66876 | chr2:178581619;178581618;178581617 | chr2:179446346;179446345;179446344 |
| N2AB | 20576 | 61951;61952;61953 | chr2:178581619;178581618;178581617 | chr2:179446346;179446345;179446344 |
| N2A | 19649 | 59170;59171;59172 | chr2:178581619;178581618;178581617 | chr2:179446346;179446345;179446344 |
| N2B | 13152 | 39679;39680;39681 | chr2:178581619;178581618;178581617 | chr2:179446346;179446345;179446344 |
| Novex-1 | 13277 | 40054;40055;40056 | chr2:178581619;178581618;178581617 | chr2:179446346;179446345;179446344 |
| Novex-2 | 13344 | 40255;40256;40257 | chr2:178581619;178581618;178581617 | chr2:179446346;179446345;179446344 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | rs764330098  |
-1.875 | 0.999 | N | 0.707 | 0.356 | 0.634863882896 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 5.67E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40964E-04 |
| F/C | rs764330098 |
-1.875 | 0.999 | N | 0.707 | 0.356 | 0.634863882896 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| F/C | rs764330098 |
-1.875 | 0.999 | N | 0.707 | 0.356 | 0.634863882896 | gnomAD-4.0.0 | 1.55021E-05 | None | None | None | None | N | None | 0 | 8.34335E-05 | None | 0 | 0 | None | 0 | 0 | 1.69599E-05 | 0 | 0 |
| F/L | None | None | 0.885 | N | 0.475 | 0.323 | 0.204665344411 | gnomAD-4.0.0 | 1.20043E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31262E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9254 | likely_pathogenic | 0.91 | pathogenic | -2.293 | Highly Destabilizing | 0.953 | D | 0.538 | neutral | None | None | None | None | N |
| F/C | 0.6026 | likely_pathogenic | 0.5764 | pathogenic | -1.56 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.488044039 | None | None | N |
| F/D | 0.9863 | likely_pathogenic | 0.983 | pathogenic | -1.696 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| F/E | 0.9829 | likely_pathogenic | 0.9789 | pathogenic | -1.54 | Destabilizing | 0.993 | D | 0.733 | prob.delet. | None | None | None | None | N |
| F/G | 0.9633 | likely_pathogenic | 0.963 | pathogenic | -2.683 | Highly Destabilizing | 0.993 | D | 0.694 | prob.neutral | None | None | None | None | N |
| F/H | 0.7941 | likely_pathogenic | 0.792 | pathogenic | -0.926 | Destabilizing | 0.986 | D | 0.674 | neutral | None | None | None | None | N |
| F/I | 0.7459 | likely_pathogenic | 0.6905 | pathogenic | -1.077 | Destabilizing | 0.982 | D | 0.519 | neutral | N | 0.495162012 | None | None | N |
| F/K | 0.9766 | likely_pathogenic | 0.9727 | pathogenic | -1.792 | Destabilizing | 0.993 | D | 0.737 | prob.delet. | None | None | None | None | N |
| F/L | 0.9507 | likely_pathogenic | 0.9428 | pathogenic | -1.077 | Destabilizing | 0.885 | D | 0.475 | neutral | N | 0.459027853 | None | None | N |
| F/M | 0.8136 | likely_pathogenic | 0.7823 | pathogenic | -0.873 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| F/N | 0.963 | likely_pathogenic | 0.9562 | pathogenic | -2.126 | Highly Destabilizing | 0.993 | D | 0.765 | deleterious | None | None | None | None | N |
| F/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.483 | Destabilizing | 0.998 | D | 0.762 | deleterious | None | None | None | None | N |
| F/Q | 0.9591 | likely_pathogenic | 0.9541 | pathogenic | -2.076 | Highly Destabilizing | 0.998 | D | 0.763 | deleterious | None | None | None | None | N |
| F/R | 0.9529 | likely_pathogenic | 0.949 | pathogenic | -1.25 | Destabilizing | 0.993 | D | 0.764 | deleterious | None | None | None | None | N |
| F/S | 0.9232 | likely_pathogenic | 0.911 | pathogenic | -2.862 | Highly Destabilizing | 0.991 | D | 0.645 | neutral | N | 0.500388499 | None | None | N |
| F/T | 0.9373 | likely_pathogenic | 0.9262 | pathogenic | -2.598 | Highly Destabilizing | 0.993 | D | 0.653 | neutral | None | None | None | None | N |
| F/V | 0.7312 | likely_pathogenic | 0.6841 | pathogenic | -1.483 | Destabilizing | 0.939 | D | 0.494 | neutral | N | 0.486499669 | None | None | N |
| F/W | 0.5678 | likely_pathogenic | 0.5791 | pathogenic | -0.136 | Destabilizing | 0.998 | D | 0.559 | neutral | None | None | None | None | N |
| F/Y | 0.1589 | likely_benign | 0.157 | benign | -0.467 | Destabilizing | 0.046 | N | 0.351 | neutral | N | 0.397323247 | 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.