Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3205 | 9838;9839;9840 | chr2:178766471;178766470;178766469 | chr2:179631198;179631197;179631196 |
| N2AB | 3205 | 9838;9839;9840 | chr2:178766471;178766470;178766469 | chr2:179631198;179631197;179631196 |
| N2A | 3205 | 9838;9839;9840 | chr2:178766471;178766470;178766469 | chr2:179631198;179631197;179631196 |
| N2B | 3159 | 9700;9701;9702 | chr2:178766471;178766470;178766469 | chr2:179631198;179631197;179631196 |
| Novex-1 | 3159 | 9700;9701;9702 | chr2:178766471;178766470;178766469 | chr2:179631198;179631197;179631196 |
| Novex-2 | 3159 | 9700;9701;9702 | chr2:178766471;178766470;178766469 | chr2:179631198;179631197;179631196 |
| Novex-3 | 3205 | 9838;9839;9840 | chr2:178766471;178766470;178766469 | chr2:179631198;179631197;179631196 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.028 | N | 0.335 | 0.175 | 0.319970858106 | gnomAD-4.0.0 | 1.59053E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85656E-06 | 0 | 0 |
| M/T | rs1315204138  |
-0.626 | 0.912 | N | 0.694 | 0.329 | 0.513503867364 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/T | rs1315204138 |
-0.626 | 0.912 | N | 0.694 | 0.329 | 0.513503867364 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs1315204138 |
-0.626 | 0.912 | N | 0.694 | 0.329 | 0.513503867364 | gnomAD-4.0.0 | 2.02982E-06 | None | None | None | None | N | None | 1.74685E-05 | 0 | None | 0 | 0 | None | 0 | 5.16529E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.9845 | likely_pathogenic | 0.9788 | pathogenic | -0.284 | Destabilizing | 0.85 | D | 0.647 | neutral | None | None | None | None | N |
| M/C | 0.9797 | likely_pathogenic | 0.9613 | pathogenic | -1.775 | Destabilizing | 0.993 | D | 0.792 | deleterious | None | None | None | None | N |
| M/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.258 | Destabilizing | 0.993 | D | 0.835 | deleterious | None | None | None | None | N |
| M/E | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -1.057 | Destabilizing | 0.977 | D | 0.811 | deleterious | None | None | None | None | N |
| M/F | 0.8593 | likely_pathogenic | 0.8074 | pathogenic | 0.495 | Stabilizing | 0.872 | D | 0.622 | neutral | None | None | None | None | N |
| M/G | 0.9961 | likely_pathogenic | 0.9955 | pathogenic | -0.639 | Destabilizing | 0.977 | D | 0.801 | deleterious | None | None | None | None | N |
| M/H | 0.9964 | likely_pathogenic | 0.9965 | pathogenic | -0.924 | Destabilizing | 0.998 | D | 0.857 | deleterious | None | None | None | None | N |
| M/I | 0.9379 | likely_pathogenic | 0.8979 | pathogenic | 0.731 | Stabilizing | 0.028 | N | 0.335 | neutral | N | 0.347123556 | None | None | N |
| M/K | 0.9906 | likely_pathogenic | 0.9932 | pathogenic | -0.268 | Destabilizing | 0.969 | D | 0.715 | prob.delet. | N | 0.332169193 | None | None | N |
| M/L | 0.3488 | ambiguous | 0.2529 | benign | 0.731 | Stabilizing | 0.002 | N | 0.275 | neutral | N | 0.260774176 | None | None | N |
| M/N | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -0.856 | Destabilizing | 0.993 | D | 0.837 | deleterious | None | None | None | None | N |
| M/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | 0.406 | Stabilizing | 0.993 | D | 0.833 | deleterious | None | None | None | None | N |
| M/Q | 0.9844 | likely_pathogenic | 0.9863 | pathogenic | -0.439 | Destabilizing | 0.993 | D | 0.655 | neutral | None | None | None | None | N |
| M/R | 0.9932 | likely_pathogenic | 0.9936 | pathogenic | -0.918 | Destabilizing | 0.969 | D | 0.772 | deleterious | N | 0.332169193 | None | None | N |
| M/S | 0.9962 | likely_pathogenic | 0.9955 | pathogenic | -0.943 | Destabilizing | 0.977 | D | 0.705 | prob.neutral | None | None | None | None | N |
| M/T | 0.9945 | likely_pathogenic | 0.9924 | pathogenic | -0.633 | Destabilizing | 0.912 | D | 0.694 | prob.neutral | N | 0.332169193 | None | None | N |
| M/V | 0.7311 | likely_pathogenic | 0.6003 | pathogenic | 0.406 | Stabilizing | 0.166 | N | 0.449 | neutral | N | 0.340002913 | None | None | N |
| M/W | 0.9954 | likely_pathogenic | 0.9937 | pathogenic | 0.107 | Stabilizing | 0.998 | D | 0.787 | deleterious | None | None | None | None | N |
| M/Y | 0.9846 | likely_pathogenic | 0.9794 | pathogenic | 0.282 | Stabilizing | 0.993 | D | 0.779 | 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.