Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30450 | 91573;91574;91575 | chr2:178551183;178551182;178551181 | chr2:179415910;179415909;179415908 |
| N2AB | 28809 | 86650;86651;86652 | chr2:178551183;178551182;178551181 | chr2:179415910;179415909;179415908 |
| N2A | 27882 | 83869;83870;83871 | chr2:178551183;178551182;178551181 | chr2:179415910;179415909;179415908 |
| N2B | 21385 | 64378;64379;64380 | chr2:178551183;178551182;178551181 | chr2:179415910;179415909;179415908 |
| Novex-1 | 21510 | 64753;64754;64755 | chr2:178551183;178551182;178551181 | chr2:179415910;179415909;179415908 |
| Novex-2 | 21577 | 64954;64955;64956 | chr2:178551183;178551182;178551181 | chr2:179415910;179415909;179415908 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.725 | 0.502 | 0.32714864917 | gnomAD-4.0.0 | 1.36861E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| G/R | rs755202685  |
-0.394 | 1.0 | N | 0.835 | 0.544 | 0.630428069638 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-06 | 0 |
| G/R | rs755202685 |
-0.394 | 1.0 | N | 0.835 | 0.544 | 0.630428069638 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs755202685 |
-0.394 | 1.0 | N | 0.835 | 0.544 | 0.630428069638 | gnomAD-4.0.0 | 6.40753E-06 | None | None | None | None | I | None | 5.07752E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78725E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8934 | likely_pathogenic | 0.9106 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.524845402 | None | None | I |
| G/C | 0.9757 | likely_pathogenic | 0.9802 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/D | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/E | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.542442678 | None | None | I |
| G/F | 0.997 | likely_pathogenic | 0.9976 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9958 | likely_pathogenic | 0.9967 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9963 | likely_pathogenic | 0.9969 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/L | 0.9953 | likely_pathogenic | 0.9961 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/M | 0.9971 | likely_pathogenic | 0.9977 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.993 | likely_pathogenic | 0.9939 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/Q | 0.9945 | likely_pathogenic | 0.9954 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/R | 0.9862 | likely_pathogenic | 0.9893 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.493890358 | None | None | I |
| G/S | 0.8897 | likely_pathogenic | 0.9046 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/T | 0.9857 | likely_pathogenic | 0.9877 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/V | 0.9924 | likely_pathogenic | 0.9939 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.52585936 | None | None | I |
| G/W | 0.9928 | likely_pathogenic | 0.995 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/Y | 0.996 | likely_pathogenic | 0.9969 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
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.