Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 150 | 673;674;675 | chr2:178800530;178800529;178800528 | chr2:179665257;179665256;179665255 |
| N2AB | 150 | 673;674;675 | chr2:178800530;178800529;178800528 | chr2:179665257;179665256;179665255 |
| N2A | 150 | 673;674;675 | chr2:178800530;178800529;178800528 | chr2:179665257;179665256;179665255 |
| N2B | 150 | 673;674;675 | chr2:178800530;178800529;178800528 | chr2:179665257;179665256;179665255 |
| Novex-1 | 150 | 673;674;675 | chr2:178800530;178800529;178800528 | chr2:179665257;179665256;179665255 |
| Novex-2 | 150 | 673;674;675 | chr2:178800530;178800529;178800528 | chr2:179665257;179665256;179665255 |
| Novex-3 | 150 | 673;674;675 | chr2:178800530;178800529;178800528 | chr2:179665257;179665256;179665255 |
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 | 0.999 | N | 0.504 | 0.544 | 0.273938319068 | gnomAD-4.0.0 | 5.47247E-06 | None | None | None | -1.434(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19435E-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 | 0.9911 | likely_pathogenic | 0.992 | pathogenic | -2.804 | Highly Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | -1.058(TCAP) | N |
| F/C | 0.9624 | likely_pathogenic | 0.9535 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.567472252 | None | -0.942(TCAP) | N |
| F/D | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -2.256 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | -1.08(TCAP) | N |
| F/E | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | -1.179(TCAP) | N |
| F/G | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | -3.219 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | -0.939(TCAP) | N |
| F/H | 0.9725 | likely_pathogenic | 0.9746 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | -0.333(TCAP) | N |
| F/I | 0.8861 | likely_pathogenic | 0.8873 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.443969642 | None | -1.434(TCAP) | N |
| F/K | 0.9965 | likely_pathogenic | 0.9969 | pathogenic | -1.903 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | -1.221(TCAP) | N |
| F/L | 0.9937 | likely_pathogenic | 0.9941 | pathogenic | -1.495 | Destabilizing | 0.999 | D | 0.504 | neutral | N | 0.493717143 | None | -1.434(TCAP) | N |
| F/M | 0.9631 | likely_pathogenic | 0.9633 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | -1.218(TCAP) | N |
| F/N | 0.993 | likely_pathogenic | 0.9938 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | -1.475(TCAP) | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | -1.307(TCAP) | N |
| F/Q | 0.9934 | likely_pathogenic | 0.9946 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | -1.488(TCAP) | N |
| F/R | 0.9884 | likely_pathogenic | 0.9902 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | -1.359(TCAP) | N |
| F/S | 0.9902 | likely_pathogenic | 0.9912 | pathogenic | -2.916 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.533216831 | None | -0.89(TCAP) | N |
| F/T | 0.9865 | likely_pathogenic | 0.988 | pathogenic | -2.662 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -1.01(TCAP) | N |
| F/V | 0.8851 | likely_pathogenic | 0.8894 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.456545213 | None | -1.307(TCAP) | N |
| F/W | 0.9304 | likely_pathogenic | 0.9311 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | -1.723(TCAP) | N |
| F/Y | 0.5153 | ambiguous | 0.5249 | ambiguous | -0.975 | Destabilizing | 0.999 | D | 0.507 | neutral | N | 0.436147785 | None | -1.522(TCAP) | 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.