Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30506 | 91741;91742;91743 | chr2:178551015;178551014;178551013 | chr2:179415742;179415741;179415740 |
| N2AB | 28865 | 86818;86819;86820 | chr2:178551015;178551014;178551013 | chr2:179415742;179415741;179415740 |
| N2A | 27938 | 84037;84038;84039 | chr2:178551015;178551014;178551013 | chr2:179415742;179415741;179415740 |
| N2B | 21441 | 64546;64547;64548 | chr2:178551015;178551014;178551013 | chr2:179415742;179415741;179415740 |
| Novex-1 | 21566 | 64921;64922;64923 | chr2:178551015;178551014;178551013 | chr2:179415742;179415741;179415740 |
| Novex-2 | 21633 | 65122;65123;65124 | chr2:178551015;178551014;178551013 | chr2:179415742;179415741;179415740 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 1.0 | D | 0.876 | 0.565 | 0.564872276104 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1699224969  |
None | 0.999 | D | 0.744 | 0.348 | 0.323342291347 | gnomAD-4.0.0 | 1.5923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85966E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6953 | likely_pathogenic | 0.6979 | pathogenic | -0.623 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | N |
| S/C | 0.8788 | likely_pathogenic | 0.8751 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.539901918 | None | None | N |
| S/D | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -0.722 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| S/E | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.628 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| S/F | 0.997 | likely_pathogenic | 0.9967 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| S/G | 0.578 | likely_pathogenic | 0.4778 | ambiguous | -0.972 | Destabilizing | 0.999 | D | 0.749 | deleterious | N | 0.472196647 | None | None | N |
| S/H | 0.9949 | likely_pathogenic | 0.9948 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| S/I | 0.9928 | likely_pathogenic | 0.9943 | pathogenic | 0.225 | Stabilizing | 1.0 | D | 0.921 | deleterious | D | 0.539648429 | None | None | N |
| S/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.725 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| S/L | 0.9671 | likely_pathogenic | 0.9658 | pathogenic | 0.225 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| S/M | 0.9895 | likely_pathogenic | 0.9901 | pathogenic | 0.23 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| S/N | 0.989 | likely_pathogenic | 0.9879 | pathogenic | -0.966 | Destabilizing | 0.999 | D | 0.744 | deleterious | D | 0.53888796 | None | None | N |
| S/P | 0.9955 | likely_pathogenic | 0.9957 | pathogenic | -0.021 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| S/Q | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/R | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.521037195 | None | None | N |
| S/T | 0.863 | likely_pathogenic | 0.8559 | pathogenic | -0.798 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | D | 0.537874002 | None | None | N |
| S/V | 0.9909 | likely_pathogenic | 0.9924 | pathogenic | -0.021 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| S/W | 0.9977 | likely_pathogenic | 0.998 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| S/Y | 0.9958 | likely_pathogenic | 0.9959 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.926 | 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.