Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6979 | 21160;21161;21162 | chr2:178724440;178724439;178724438 | chr2:179589167;179589166;179589165 |
| N2AB | 6662 | 20209;20210;20211 | chr2:178724440;178724439;178724438 | chr2:179589167;179589166;179589165 |
| N2A | 5735 | 17428;17429;17430 | chr2:178724440;178724439;178724438 | chr2:179589167;179589166;179589165 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | None | None | 0.001 | D | 0.257 | 0.407 | 0.510466299808 | gnomAD-4.0.0 | 1.5922E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86008E-06 | 0 | 0 |
| V/F | None | None | 0.627 | D | 0.745 | 0.523 | 0.782319092378 | gnomAD-4.0.0 | 6.84378E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99648E-07 | 0 | 0 |
| V/I | rs768060617  |
0.601 | 0.001 | N | 0.335 | 0.132 | 0.314716216878 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/I | rs768060617 |
0.601 | 0.001 | N | 0.335 | 0.132 | 0.314716216878 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs768060617 |
0.601 | 0.001 | N | 0.335 | 0.132 | 0.314716216878 | gnomAD-4.0.0 | 3.09916E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23887E-06 | 0 | 0 |
| V/L | None | None | 0.033 | D | 0.518 | 0.341 | 0.340753184043 | gnomAD-4.0.0 | 6.84378E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99648E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1071 | likely_benign | 0.1113 | benign | -1.529 | Destabilizing | 0.001 | N | 0.257 | neutral | D | 0.556587529 | None | None | N |
| V/C | 0.7847 | likely_pathogenic | 0.8069 | pathogenic | -0.988 | Destabilizing | 0.981 | D | 0.724 | prob.delet. | None | None | None | None | N |
| V/D | 0.6807 | likely_pathogenic | 0.7303 | pathogenic | -1.691 | Destabilizing | 0.627 | D | 0.799 | deleterious | D | 0.593203465 | None | None | N |
| V/E | 0.5529 | ambiguous | 0.5838 | pathogenic | -1.541 | Destabilizing | 0.388 | N | 0.767 | deleterious | None | None | None | None | N |
| V/F | 0.3392 | likely_benign | 0.3555 | ambiguous | -0.916 | Destabilizing | 0.627 | D | 0.745 | deleterious | D | 0.545367195 | None | None | N |
| V/G | 0.2614 | likely_benign | 0.2841 | benign | -1.972 | Destabilizing | 0.193 | N | 0.761 | deleterious | D | 0.576951939 | None | None | N |
| V/H | 0.8221 | likely_pathogenic | 0.8372 | pathogenic | -1.48 | Destabilizing | 0.981 | D | 0.809 | deleterious | None | None | None | None | N |
| V/I | 0.109 | likely_benign | 0.1064 | benign | -0.344 | Destabilizing | 0.001 | N | 0.335 | neutral | N | 0.429247317 | None | None | N |
| V/K | 0.6072 | likely_pathogenic | 0.6295 | pathogenic | -1.228 | Destabilizing | 0.388 | N | 0.772 | deleterious | None | None | None | None | N |
| V/L | 0.3202 | likely_benign | 0.3266 | benign | -0.344 | Destabilizing | 0.033 | N | 0.518 | neutral | D | 0.55426505 | None | None | N |
| V/M | 0.1933 | likely_benign | 0.1792 | benign | -0.352 | Destabilizing | 0.69 | D | 0.615 | neutral | None | None | None | None | N |
| V/N | 0.5528 | ambiguous | 0.5938 | pathogenic | -1.378 | Destabilizing | 0.69 | D | 0.807 | deleterious | None | None | None | None | N |
| V/P | 0.5317 | ambiguous | 0.6529 | pathogenic | -0.708 | Destabilizing | 0.002 | N | 0.539 | neutral | None | None | None | None | N |
| V/Q | 0.5729 | likely_pathogenic | 0.5945 | pathogenic | -1.331 | Destabilizing | 0.818 | D | 0.803 | deleterious | None | None | None | None | N |
| V/R | 0.538 | ambiguous | 0.5781 | pathogenic | -0.957 | Destabilizing | 0.818 | D | 0.811 | deleterious | None | None | None | None | N |
| V/S | 0.2379 | likely_benign | 0.2521 | benign | -1.956 | Destabilizing | 0.241 | N | 0.717 | prob.delet. | None | None | None | None | N |
| V/T | 0.1206 | likely_benign | 0.1204 | benign | -1.667 | Destabilizing | 0.008 | N | 0.351 | neutral | None | None | None | None | N |
| V/W | 0.913 | likely_pathogenic | 0.913 | pathogenic | -1.277 | Destabilizing | 0.981 | D | 0.811 | deleterious | None | None | None | None | N |
| V/Y | 0.8001 | likely_pathogenic | 0.8137 | pathogenic | -0.874 | Destabilizing | 0.818 | D | 0.741 | 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.