Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30476 | 91651;91652;91653 | chr2:178551105;178551104;178551103 | chr2:179415832;179415831;179415830 |
| N2AB | 28835 | 86728;86729;86730 | chr2:178551105;178551104;178551103 | chr2:179415832;179415831;179415830 |
| N2A | 27908 | 83947;83948;83949 | chr2:178551105;178551104;178551103 | chr2:179415832;179415831;179415830 |
| N2B | 21411 | 64456;64457;64458 | chr2:178551105;178551104;178551103 | chr2:179415832;179415831;179415830 |
| Novex-1 | 21536 | 64831;64832;64833 | chr2:178551105;178551104;178551103 | chr2:179415832;179415831;179415830 |
| Novex-2 | 21603 | 65032;65033;65034 | chr2:178551105;178551104;178551103 | chr2:179415832;179415831;179415830 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs377531244  |
-0.298 | 0.949 | N | 0.343 | 0.135 | None | gnomAD-2.1.1 | 6.08E-05 | None | None | None | None | N | None | 5.37768E-04 | 5.67E-05 | None | 0 | 1.03103E-04 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs377531244 |
-0.298 | 0.949 | N | 0.343 | 0.135 | None | gnomAD-3.1.2 | 1.24903E-04 | None | None | None | None | N | None | 4.10569E-04 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| V/I | rs377531244 |
-0.298 | 0.949 | N | 0.343 | 0.135 | None | gnomAD-4.0.0 | 4.71081E-05 | None | None | None | None | N | None | 3.60673E-04 | 5.00367E-05 | None | 0 | 8.93176E-05 | None | 0 | 0 | 3.22133E-05 | 1.09818E-05 | 4.8043E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6348 | likely_pathogenic | 0.7218 | pathogenic | -1.732 | Destabilizing | 0.998 | D | 0.54 | neutral | N | 0.509648675 | None | None | N |
| V/C | 0.8927 | likely_pathogenic | 0.9094 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/D | 0.9549 | likely_pathogenic | 0.974 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.485140945 | None | None | N |
| V/E | 0.9111 | likely_pathogenic | 0.9431 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/F | 0.6765 | likely_pathogenic | 0.7227 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.481599454 | None | None | N |
| V/G | 0.8162 | likely_pathogenic | 0.8695 | pathogenic | -2.193 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.500914548 | None | None | N |
| V/H | 0.964 | likely_pathogenic | 0.9763 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/I | 0.0803 | likely_benign | 0.0782 | benign | -0.503 | Destabilizing | 0.949 | D | 0.343 | neutral | N | 0.432748116 | None | None | N |
| V/K | 0.9241 | likely_pathogenic | 0.9487 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| V/L | 0.5074 | ambiguous | 0.5303 | ambiguous | -0.503 | Destabilizing | 0.992 | D | 0.479 | neutral | N | 0.499549111 | None | None | N |
| V/M | 0.4362 | ambiguous | 0.4741 | ambiguous | -0.67 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| V/N | 0.8619 | likely_pathogenic | 0.9007 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/P | 0.9603 | likely_pathogenic | 0.973 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/Q | 0.9031 | likely_pathogenic | 0.93 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/R | 0.9079 | likely_pathogenic | 0.9356 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/S | 0.7803 | likely_pathogenic | 0.8438 | pathogenic | -1.947 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/T | 0.5906 | likely_pathogenic | 0.6586 | pathogenic | -1.659 | Destabilizing | 0.998 | D | 0.649 | neutral | None | None | None | None | N |
| V/W | 0.9901 | likely_pathogenic | 0.9935 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/Y | 0.9459 | likely_pathogenic | 0.9603 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.791 | 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.