Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24885 | 74878;74879;74880 | chr2:178571479;178571478;178571477 | chr2:179436206;179436205;179436204 |
| N2AB | 23244 | 69955;69956;69957 | chr2:178571479;178571478;178571477 | chr2:179436206;179436205;179436204 |
| N2A | 22317 | 67174;67175;67176 | chr2:178571479;178571478;178571477 | chr2:179436206;179436205;179436204 |
| N2B | 15820 | 47683;47684;47685 | chr2:178571479;178571478;178571477 | chr2:179436206;179436205;179436204 |
| Novex-1 | 15945 | 48058;48059;48060 | chr2:178571479;178571478;178571477 | chr2:179436206;179436205;179436204 |
| Novex-2 | 16012 | 48259;48260;48261 | chr2:178571479;178571478;178571477 | chr2:179436206;179436205;179436204 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs748083856  |
-2.15 | 1.0 | D | 0.785 | 0.656 | 0.57047621783 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| A/T | rs748083856 |
-2.15 | 1.0 | D | 0.785 | 0.656 | 0.57047621783 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs748083856 |
-2.15 | 1.0 | D | 0.785 | 0.656 | 0.57047621783 | gnomAD-4.0.0 | 5.12731E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57653E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8836 | likely_pathogenic | 0.8713 | pathogenic | -2.016 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/D | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -3.049 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.573054642 | None | None | N |
| A/E | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -2.83 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/F | 0.9968 | likely_pathogenic | 0.9966 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/G | 0.6921 | likely_pathogenic | 0.7361 | pathogenic | -2.354 | Highly Destabilizing | 1.0 | D | 0.611 | neutral | D | 0.539693288 | None | None | N |
| A/H | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -2.08 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/I | 0.9887 | likely_pathogenic | 0.9861 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.589 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/L | 0.9604 | likely_pathogenic | 0.9547 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/M | 0.9813 | likely_pathogenic | 0.9786 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/N | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/P | 0.9935 | likely_pathogenic | 0.9926 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.550177447 | None | None | N |
| A/Q | 0.9947 | likely_pathogenic | 0.9944 | pathogenic | -1.822 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/R | 0.9973 | likely_pathogenic | 0.9971 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/S | 0.3598 | ambiguous | 0.3835 | ambiguous | -2.405 | Highly Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.513142335 | None | None | N |
| A/T | 0.8513 | likely_pathogenic | 0.849 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.550894554 | None | None | N |
| A/V | 0.9146 | likely_pathogenic | 0.8994 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.552668981 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/Y | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | 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.