Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2153 | 6682;6683;6684 | chr2:178775407;178775406;178775405 | chr2:179640134;179640133;179640132 |
| N2AB | 2153 | 6682;6683;6684 | chr2:178775407;178775406;178775405 | chr2:179640134;179640133;179640132 |
| N2A | 2153 | 6682;6683;6684 | chr2:178775407;178775406;178775405 | chr2:179640134;179640133;179640132 |
| N2B | 2107 | 6544;6545;6546 | chr2:178775407;178775406;178775405 | chr2:179640134;179640133;179640132 |
| Novex-1 | 2107 | 6544;6545;6546 | chr2:178775407;178775406;178775405 | chr2:179640134;179640133;179640132 |
| Novex-2 | 2107 | 6544;6545;6546 | chr2:178775407;178775406;178775405 | chr2:179640134;179640133;179640132 |
| Novex-3 | 2153 | 6682;6683;6684 | chr2:178775407;178775406;178775405 | chr2:179640134;179640133;179640132 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs747598396  |
-0.993 | 1.0 | D | 0.874 | 0.866 | 0.810821675883 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| A/P | rs747598396 |
-0.993 | 1.0 | D | 0.874 | 0.866 | 0.810821675883 | gnomAD-4.0.0 | 1.59068E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85654E-06 | 0 | 0 |
| A/T | rs747598396 |
-1.924 | 1.0 | D | 0.767 | 0.781 | 0.763539920403 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8299 | likely_pathogenic | 0.8485 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/D | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -2.948 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.804849141 | None | None | N |
| A/E | 0.9963 | likely_pathogenic | 0.9971 | pathogenic | -2.812 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/F | 0.9856 | likely_pathogenic | 0.988 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/G | 0.4319 | ambiguous | 0.4616 | ambiguous | -1.846 | Destabilizing | 1.0 | D | 0.562 | neutral | D | 0.733936284 | None | None | N |
| A/H | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/I | 0.8962 | likely_pathogenic | 0.915 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/K | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.668 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/L | 0.8311 | likely_pathogenic | 0.8566 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/M | 0.8975 | likely_pathogenic | 0.9131 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/N | 0.9906 | likely_pathogenic | 0.9927 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/P | 0.9961 | likely_pathogenic | 0.9966 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.748670355 | None | None | N |
| A/Q | 0.9936 | likely_pathogenic | 0.9948 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/R | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/S | 0.4697 | ambiguous | 0.5048 | ambiguous | -2.205 | Highly Destabilizing | 1.0 | D | 0.571 | neutral | D | 0.748753547 | None | None | N |
| A/T | 0.712 | likely_pathogenic | 0.7553 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.749487067 | None | None | N |
| A/V | 0.6485 | likely_pathogenic | 0.6928 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.63 | neutral | D | 0.576419938 | None | None | N |
| A/W | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/Y | 0.9961 | likely_pathogenic | 0.9968 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.887 | 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.