Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9416 | 28471;28472;28473 | chr2:178710851;178710850;178710849 | chr2:179575578;179575577;179575576 |
| N2AB | 9099 | 27520;27521;27522 | chr2:178710851;178710850;178710849 | chr2:179575578;179575577;179575576 |
| N2A | 8172 | 24739;24740;24741 | chr2:178710851;178710850;178710849 | chr2:179575578;179575577;179575576 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/L | None | None | None | None | 0.305 | 0.138 | 0.151104730317 | gnomAD-4.0.0 | 6.84173E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99439E-07 | 0 | 0 |
| F/S | None | None | 0.211 | None | 0.8 | 0.712 | 0.82249240307 | gnomAD-4.0.0 | 6.84174E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99442E-07 | 0 | 0 |
| F/Y | rs879120584  |
-0.721 | 0.211 | None | 0.609 | 0.582 | 0.529311486226 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.81E-06 | 1.40371E-04 |
| F/Y | rs879120584 |
-0.721 | 0.211 | None | 0.609 | 0.582 | 0.529311486226 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/Y | rs879120584 |
-0.721 | 0.211 | None | 0.609 | 0.582 | 0.529311486226 | gnomAD-4.0.0 | 6.19678E-06 | None | None | None | None | N | None | 2.67008E-05 | 3.33433E-05 | None | 0 | 0 | None | 0 | 0 | 5.0855E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9657 | likely_pathogenic | 0.9658 | pathogenic | -2.259 | Highly Destabilizing | 0.149 | N | 0.748 | deleterious | None | None | None | None | N |
| F/C | 0.9451 | likely_pathogenic | 0.937 | pathogenic | -1.473 | Destabilizing | 0.915 | D | 0.863 | deleterious | None | None | None | None | N |
| F/D | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -3.006 | Highly Destabilizing | 0.791 | D | 0.869 | deleterious | None | None | None | None | N |
| F/E | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -2.75 | Highly Destabilizing | 0.555 | D | 0.857 | deleterious | None | None | None | None | N |
| F/G | 0.9887 | likely_pathogenic | 0.9885 | pathogenic | -2.746 | Highly Destabilizing | 0.555 | D | 0.835 | deleterious | None | None | None | None | N |
| F/H | 0.9842 | likely_pathogenic | 0.986 | pathogenic | -1.765 | Destabilizing | 0.935 | D | 0.789 | deleterious | None | None | None | None | N |
| F/I | 0.5776 | likely_pathogenic | 0.5591 | ambiguous | -0.668 | Destabilizing | 0.027 | N | 0.633 | neutral | None | None | None | None | N |
| F/K | 0.9961 | likely_pathogenic | 0.9961 | pathogenic | -1.877 | Destabilizing | 0.555 | D | 0.831 | deleterious | None | None | None | None | N |
| F/L | 0.8934 | likely_pathogenic | 0.8645 | pathogenic | -0.668 | Destabilizing | None | N | 0.305 | neutral | None | None | None | None | N |
| F/M | 0.7307 | likely_pathogenic | 0.6974 | pathogenic | -0.557 | Destabilizing | 0.235 | N | 0.687 | prob.neutral | None | None | None | None | N |
| F/N | 0.9943 | likely_pathogenic | 0.9943 | pathogenic | -2.54 | Highly Destabilizing | 0.791 | D | 0.871 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.212 | Destabilizing | 0.791 | D | 0.877 | deleterious | None | None | None | None | N |
| F/Q | 0.9942 | likely_pathogenic | 0.9945 | pathogenic | -2.3 | Highly Destabilizing | 0.791 | D | 0.877 | deleterious | None | None | None | None | N |
| F/R | 0.9911 | likely_pathogenic | 0.9909 | pathogenic | -1.822 | Destabilizing | 0.555 | D | 0.868 | deleterious | None | None | None | None | N |
| F/S | 0.9801 | likely_pathogenic | 0.9811 | pathogenic | -3.07 | Highly Destabilizing | 0.211 | N | 0.8 | deleterious | None | None | None | None | N |
| F/T | 0.97 | likely_pathogenic | 0.971 | pathogenic | -2.681 | Highly Destabilizing | 0.149 | N | 0.776 | deleterious | None | None | None | None | N |
| F/V | 0.6634 | likely_pathogenic | 0.6499 | pathogenic | -1.212 | Destabilizing | 0.027 | N | 0.701 | prob.neutral | None | None | None | None | N |
| F/W | 0.8491 | likely_pathogenic | 0.8636 | pathogenic | 0.014 | Stabilizing | 0.935 | D | 0.671 | neutral | None | None | None | None | N |
| F/Y | 0.6096 | likely_pathogenic | 0.6237 | pathogenic | -0.377 | Destabilizing | 0.211 | N | 0.609 | neutral | 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.