Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24879 | 74860;74861;74862 | chr2:178571497;178571496;178571495 | chr2:179436224;179436223;179436222 |
| N2AB | 23238 | 69937;69938;69939 | chr2:178571497;178571496;178571495 | chr2:179436224;179436223;179436222 |
| N2A | 22311 | 67156;67157;67158 | chr2:178571497;178571496;178571495 | chr2:179436224;179436223;179436222 |
| N2B | 15814 | 47665;47666;47667 | chr2:178571497;178571496;178571495 | chr2:179436224;179436223;179436222 |
| Novex-1 | 15939 | 48040;48041;48042 | chr2:178571497;178571496;178571495 | chr2:179436224;179436223;179436222 |
| Novex-2 | 16006 | 48241;48242;48243 | chr2:178571497;178571496;178571495 | chr2:179436224;179436223;179436222 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs933323916  |
None | 1.0 | D | 0.87 | 0.875 | 0.86905450278 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs933323916 |
None | 1.0 | D | 0.87 | 0.875 | 0.86905450278 | gnomAD-4.0.0 | 2.56375E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78838E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -3.359 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/C | 0.9791 | likely_pathogenic | 0.9825 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.68570495 | None | None | N |
| Y/D | 0.9971 | likely_pathogenic | 0.9972 | pathogenic | -3.468 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.68570495 | None | None | N |
| Y/E | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -3.287 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/F | 0.4554 | ambiguous | 0.4725 | ambiguous | -1.217 | Destabilizing | 0.999 | D | 0.761 | deleterious | D | 0.630490842 | None | None | N |
| Y/G | 0.993 | likely_pathogenic | 0.9934 | pathogenic | -3.764 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| Y/H | 0.9882 | likely_pathogenic | 0.9894 | pathogenic | -2.179 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.68570495 | None | None | N |
| Y/I | 0.9757 | likely_pathogenic | 0.9809 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/K | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| Y/L | 0.9674 | likely_pathogenic | 0.9713 | pathogenic | -2.017 | Highly Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
| Y/M | 0.9902 | likely_pathogenic | 0.9916 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/N | 0.9816 | likely_pathogenic | 0.9836 | pathogenic | -2.92 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.685503146 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.478 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/Q | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -2.749 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/R | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/S | 0.9922 | likely_pathogenic | 0.9933 | pathogenic | -3.336 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.68570495 | None | None | N |
| Y/T | 0.9963 | likely_pathogenic | 0.997 | pathogenic | -3.041 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| Y/V | 0.9539 | likely_pathogenic | 0.9637 | pathogenic | -2.478 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| Y/W | 0.9156 | likely_pathogenic | 0.9213 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.823 | 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.