Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15046 | 45361;45362;45363 | chr2:178621688;178621687;178621686 | chr2:179486415;179486414;179486413 |
| N2AB | 13405 | 40438;40439;40440 | chr2:178621688;178621687;178621686 | chr2:179486415;179486414;179486413 |
| N2A | 12478 | 37657;37658;37659 | chr2:178621688;178621687;178621686 | chr2:179486415;179486414;179486413 |
| N2B | 5981 | 18166;18167;18168 | chr2:178621688;178621687;178621686 | chr2:179486415;179486414;179486413 |
| Novex-1 | 6106 | 18541;18542;18543 | chr2:178621688;178621687;178621686 | chr2:179486415;179486414;179486413 |
| Novex-2 | 6173 | 18742;18743;18744 | chr2:178621688;178621687;178621686 | chr2:179486415;179486414;179486413 |
| 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/E | None | None | 0.117 | N | 0.315 | 0.197 | 0.26169431596 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| D/G | rs754204056  |
-0.847 | 0.977 | D | 0.675 | 0.64 | 0.507213507908 | gnomAD-2.1.1 | 3.25E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.61746E-04 | None | 0 | 0 | 0 |
| D/G | rs754204056 |
-0.847 | 0.977 | D | 0.675 | 0.64 | 0.507213507908 | gnomAD-4.0.0 | 1.43819E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32013E-04 | 1.65937E-05 |
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 | 0.2501 | likely_benign | 0.3833 | ambiguous | -0.347 | Destabilizing | 0.993 | D | 0.672 | neutral | D | 0.529375827 | None | None | N |
| D/C | 0.8773 | likely_pathogenic | 0.9489 | pathogenic | 0.243 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/E | 0.2477 | likely_benign | 0.3329 | benign | -0.471 | Destabilizing | 0.117 | N | 0.315 | neutral | N | 0.516336294 | None | None | N |
| D/F | 0.8696 | likely_pathogenic | 0.9436 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/G | 0.2517 | likely_benign | 0.3775 | ambiguous | -0.556 | Destabilizing | 0.977 | D | 0.675 | prob.neutral | D | 0.547981039 | None | None | N |
| D/H | 0.5598 | ambiguous | 0.7311 | pathogenic | -0.706 | Destabilizing | 0.999 | D | 0.745 | deleterious | D | 0.579128777 | None | None | N |
| D/I | 0.786 | likely_pathogenic | 0.8882 | pathogenic | 0.159 | Stabilizing | 0.998 | D | 0.761 | deleterious | None | None | None | None | N |
| D/K | 0.5842 | likely_pathogenic | 0.7662 | pathogenic | 0.313 | Stabilizing | 0.99 | D | 0.694 | prob.neutral | None | None | None | None | N |
| D/L | 0.7374 | likely_pathogenic | 0.8695 | pathogenic | 0.159 | Stabilizing | 0.995 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/M | 0.84 | likely_pathogenic | 0.9255 | pathogenic | 0.555 | Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/N | 0.1455 | likely_benign | 0.1975 | benign | 0.067 | Stabilizing | 0.993 | D | 0.7 | prob.neutral | D | 0.543018071 | None | None | N |
| D/P | 0.9684 | likely_pathogenic | 0.9838 | pathogenic | 0.013 | Stabilizing | 0.998 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/Q | 0.5208 | ambiguous | 0.6943 | pathogenic | 0.084 | Stabilizing | 0.99 | D | 0.741 | deleterious | None | None | None | None | N |
| D/R | 0.6489 | likely_pathogenic | 0.8157 | pathogenic | 0.265 | Stabilizing | 0.995 | D | 0.743 | deleterious | None | None | None | None | N |
| D/S | 0.1819 | likely_benign | 0.272 | benign | -0.043 | Destabilizing | 0.983 | D | 0.641 | neutral | None | None | None | None | N |
| D/T | 0.4714 | ambiguous | 0.6256 | pathogenic | 0.12 | Stabilizing | 0.995 | D | 0.742 | deleterious | None | None | None | None | N |
| D/V | 0.5354 | ambiguous | 0.6921 | pathogenic | 0.013 | Stabilizing | 0.997 | D | 0.727 | prob.delet. | D | 0.67126161 | None | None | N |
| D/W | 0.9757 | likely_pathogenic | 0.9905 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/Y | 0.5049 | ambiguous | 0.6977 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.607793953 | 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.