Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35492 | 106699;106700;106701 | chr2:178530017;178530016;178530015 | chr2:179394744;179394743;179394742 |
| N2AB | 33851 | 101776;101777;101778 | chr2:178530017;178530016;178530015 | chr2:179394744;179394743;179394742 |
| N2A | 32924 | 98995;98996;98997 | chr2:178530017;178530016;178530015 | chr2:179394744;179394743;179394742 |
| N2B | 26427 | 79504;79505;79506 | chr2:178530017;178530016;178530015 | chr2:179394744;179394743;179394742 |
| Novex-1 | 26552 | 79879;79880;79881 | chr2:178530017;178530016;178530015 | chr2:179394744;179394743;179394742 |
| Novex-2 | 26619 | 80080;80081;80082 | chr2:178530017;178530016;178530015 | chr2:179394744;179394743;179394742 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 0.322 | D | 0.823 | 0.435 | 0.782552742157 | gnomAD-4.0.0 | 6.86708E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00383E-07 | 0 | 0 |
| C/R | None | None | 0.001 | D | 0.726 | 0.423 | 0.723900465636 | gnomAD-4.0.0 | 4.12025E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.4023E-06 | 0 | 0 |
| C/S | rs1242910392  |
-1.168 | 0.322 | D | 0.728 | 0.412 | 0.71166902715 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs1242910392 |
-1.168 | 0.322 | D | 0.728 | 0.412 | 0.71166902715 | gnomAD-4.0.0 | 6.86774E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00419E-07 | 0 | 0 |
| C/Y | None | None | 0.911 | D | 0.838 | 0.419 | 0.772592770513 | gnomAD-4.0.0 | 6.86774E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52781E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7446 | likely_pathogenic | 0.7237 | pathogenic | -1.434 | Destabilizing | 0.206 | N | 0.607 | neutral | None | None | None | None | N |
| C/D | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -0.889 | Destabilizing | 0.688 | D | 0.841 | deleterious | None | None | None | None | N |
| C/E | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -0.709 | Destabilizing | 0.688 | D | 0.827 | deleterious | None | None | None | None | N |
| C/F | 0.4662 | ambiguous | 0.4354 | ambiguous | -1.147 | Destabilizing | 0.911 | D | 0.839 | deleterious | D | 0.551825472 | None | None | N |
| C/G | 0.6228 | likely_pathogenic | 0.6 | pathogenic | -1.756 | Destabilizing | 0.322 | N | 0.823 | deleterious | D | 0.553346409 | None | None | N |
| C/H | 0.9865 | likely_pathogenic | 0.9853 | pathogenic | -2.151 | Highly Destabilizing | 0.944 | D | 0.883 | deleterious | None | None | None | None | N |
| C/I | 0.633 | likely_pathogenic | 0.6152 | pathogenic | -0.596 | Destabilizing | 0.817 | D | 0.78 | deleterious | None | None | None | None | N |
| C/K | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -0.505 | Destabilizing | 0.239 | N | 0.814 | deleterious | None | None | None | None | N |
| C/L | 0.5945 | likely_pathogenic | 0.5664 | pathogenic | -0.596 | Destabilizing | 0.386 | N | 0.733 | prob.delet. | None | None | None | None | N |
| C/M | 0.8425 | likely_pathogenic | 0.8294 | pathogenic | -0.073 | Destabilizing | 0.932 | D | 0.793 | deleterious | None | None | None | None | N |
| C/N | 0.9844 | likely_pathogenic | 0.983 | pathogenic | -0.903 | Destabilizing | 0.688 | D | 0.845 | deleterious | None | None | None | None | N |
| C/P | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | -0.851 | Destabilizing | 0.932 | D | 0.862 | deleterious | None | None | None | None | N |
| C/Q | 0.9933 | likely_pathogenic | 0.9928 | pathogenic | -0.624 | Destabilizing | 0.688 | D | 0.86 | deleterious | None | None | None | None | N |
| C/R | 0.9816 | likely_pathogenic | 0.9801 | pathogenic | -0.896 | Destabilizing | 0.001 | N | 0.726 | prob.delet. | D | 0.553346409 | None | None | N |
| C/S | 0.857 | likely_pathogenic | 0.8481 | pathogenic | -1.242 | Destabilizing | 0.322 | N | 0.728 | prob.delet. | D | 0.553346409 | None | None | N |
| C/T | 0.8957 | likely_pathogenic | 0.8917 | pathogenic | -0.869 | Destabilizing | 0.386 | N | 0.733 | prob.delet. | None | None | None | None | N |
| C/V | 0.52 | ambiguous | 0.5041 | ambiguous | -0.851 | Destabilizing | 0.56 | D | 0.732 | prob.delet. | None | None | None | None | N |
| C/W | 0.9341 | likely_pathogenic | 0.9275 | pathogenic | -1.401 | Destabilizing | 0.975 | D | 0.854 | deleterious | D | 0.553346409 | None | None | N |
| C/Y | 0.7953 | likely_pathogenic | 0.7817 | pathogenic | -1.161 | Destabilizing | 0.911 | D | 0.838 | deleterious | D | 0.553346409 | 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.