Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3023 | 9292;9293;9294 | chr2:178768769;178768768;178768767 | chr2:179633496;179633495;179633494 |
| N2AB | 3023 | 9292;9293;9294 | chr2:178768769;178768768;178768767 | chr2:179633496;179633495;179633494 |
| N2A | 3023 | 9292;9293;9294 | chr2:178768769;178768768;178768767 | chr2:179633496;179633495;179633494 |
| N2B | 2977 | 9154;9155;9156 | chr2:178768769;178768768;178768767 | chr2:179633496;179633495;179633494 |
| Novex-1 | 2977 | 9154;9155;9156 | chr2:178768769;178768768;178768767 | chr2:179633496;179633495;179633494 |
| Novex-2 | 2977 | 9154;9155;9156 | chr2:178768769;178768768;178768767 | chr2:179633496;179633495;179633494 |
| Novex-3 | 3023 | 9292;9293;9294 | chr2:178768769;178768768;178768767 | chr2:179633496;179633495;179633494 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | None | None | 1.0 | N | 0.699 | 0.5 | 0.162503812791 | gnomAD-4.0.0 | 1.59059E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-06 | 0 | 0 |
| H/Y | rs763992518  |
0.253 | 0.999 | N | 0.622 | 0.502 | 0.229924730088 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 1.97662E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.38504E-04 |
| H/Y | rs763992518 |
0.253 | 0.999 | N | 0.622 | 0.502 | 0.229924730088 | gnomAD-4.0.0 | 1.43153E-05 | None | None | None | None | N | None | 0 | 2.05799E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9718 | likely_pathogenic | 0.9805 | pathogenic | -1.79 | Destabilizing | 0.999 | D | 0.73 | prob.delet. | None | None | None | None | N |
| H/C | 0.7353 | likely_pathogenic | 0.8229 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| H/D | 0.9898 | likely_pathogenic | 0.9922 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.555987078 | None | None | N |
| H/E | 0.9905 | likely_pathogenic | 0.993 | pathogenic | -1.846 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| H/F | 0.8953 | likely_pathogenic | 0.9379 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| H/G | 0.9882 | likely_pathogenic | 0.9915 | pathogenic | -2.233 | Highly Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| H/I | 0.9742 | likely_pathogenic | 0.9866 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| H/K | 0.9736 | likely_pathogenic | 0.9851 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| H/L | 0.8352 | likely_pathogenic | 0.8819 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.523066485 | None | None | N |
| H/M | 0.9788 | likely_pathogenic | 0.986 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| H/N | 0.8467 | likely_pathogenic | 0.8899 | pathogenic | -1.981 | Destabilizing | 0.999 | D | 0.602 | neutral | D | 0.594388605 | None | None | N |
| H/P | 0.9924 | likely_pathogenic | 0.995 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.555105452 | None | None | N |
| H/Q | 0.9444 | likely_pathogenic | 0.96 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.488224071 | None | None | N |
| H/R | 0.8586 | likely_pathogenic | 0.9189 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.440344431 | None | None | N |
| H/S | 0.9486 | likely_pathogenic | 0.962 | pathogenic | -2.211 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| H/T | 0.9789 | likely_pathogenic | 0.9875 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| H/V | 0.9513 | likely_pathogenic | 0.9704 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| H/W | 0.9266 | likely_pathogenic | 0.95 | pathogenic | 0.62 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| H/Y | 0.5685 | likely_pathogenic | 0.713 | pathogenic | 0.393 | Stabilizing | 0.999 | D | 0.622 | neutral | N | 0.456015178 | 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.