Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17220 | 51883;51884;51885 | chr2:178609765;178609764;178609763 | chr2:179474492;179474491;179474490 |
| N2AB | 15579 | 46960;46961;46962 | chr2:178609765;178609764;178609763 | chr2:179474492;179474491;179474490 |
| N2A | 14652 | 44179;44180;44181 | chr2:178609765;178609764;178609763 | chr2:179474492;179474491;179474490 |
| N2B | 8155 | 24688;24689;24690 | chr2:178609765;178609764;178609763 | chr2:179474492;179474491;179474490 |
| Novex-1 | 8280 | 25063;25064;25065 | chr2:178609765;178609764;178609763 | chr2:179474492;179474491;179474490 |
| Novex-2 | 8347 | 25264;25265;25266 | chr2:178609765;178609764;178609763 | chr2:179474492;179474491;179474490 |
| 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/I | rs747296177  |
-1.093 | 0.982 | N | 0.719 | 0.455 | 0.381916209588 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| F/I | rs747296177 |
-1.093 | 0.982 | N | 0.719 | 0.455 | 0.381916209588 | gnomAD-4.0.0 | 1.59315E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77593E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -2.98 | Highly Destabilizing | 0.953 | D | 0.777 | deleterious | None | None | None | None | N |
| F/C | 0.9801 | likely_pathogenic | 0.9808 | pathogenic | -1.808 | Destabilizing | 0.999 | D | 0.795 | deleterious | D | 0.54450441 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.658 | Highly Destabilizing | 0.998 | D | 0.829 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.442 | Highly Destabilizing | 0.993 | D | 0.837 | deleterious | None | None | None | None | N |
| F/G | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -3.427 | Highly Destabilizing | 0.993 | D | 0.783 | deleterious | None | None | None | None | N |
| F/H | 0.993 | likely_pathogenic | 0.9924 | pathogenic | -2.021 | Highly Destabilizing | 0.986 | D | 0.712 | prob.delet. | None | None | None | None | N |
| F/I | 0.9617 | likely_pathogenic | 0.9612 | pathogenic | -1.507 | Destabilizing | 0.982 | D | 0.719 | prob.delet. | N | 0.492185746 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.401 | Highly Destabilizing | 0.993 | D | 0.834 | deleterious | None | None | None | None | N |
| F/L | 0.9958 | likely_pathogenic | 0.9959 | pathogenic | -1.507 | Destabilizing | 0.885 | D | 0.697 | prob.neutral | N | 0.502340737 | None | None | N |
| F/M | 0.984 | likely_pathogenic | 0.9836 | pathogenic | -1.075 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| F/N | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -2.99 | Highly Destabilizing | 0.998 | D | 0.835 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.012 | Highly Destabilizing | 0.998 | D | 0.858 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.915 | Highly Destabilizing | 0.998 | D | 0.857 | deleterious | None | None | None | None | N |
| F/R | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.909 | Destabilizing | 0.993 | D | 0.833 | deleterious | None | None | None | None | N |
| F/S | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -3.54 | Highly Destabilizing | 0.991 | D | 0.797 | deleterious | D | 0.555860715 | None | None | N |
| F/T | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -3.211 | Highly Destabilizing | 0.993 | D | 0.805 | deleterious | None | None | None | None | N |
| F/V | 0.9653 | likely_pathogenic | 0.9654 | pathogenic | -2.012 | Highly Destabilizing | 0.939 | D | 0.705 | prob.neutral | N | 0.485420888 | None | None | N |
| F/W | 0.8869 | likely_pathogenic | 0.8638 | pathogenic | -0.635 | Destabilizing | 0.998 | D | 0.704 | prob.neutral | None | None | None | None | N |
| F/Y | 0.4491 | ambiguous | 0.3789 | ambiguous | -1.03 | Destabilizing | 0.02 | N | 0.168 | neutral | N | 0.494684642 | 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.