Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9930 | 30013;30014;30015 | chr2:178704684;178704683;178704682 | chr2:179569411;179569410;179569409 |
| N2AB | 9613 | 29062;29063;29064 | chr2:178704684;178704683;178704682 | chr2:179569411;179569410;179569409 |
| N2A | 8686 | 26281;26282;26283 | chr2:178704684;178704683;178704682 | chr2:179569411;179569410;179569409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/S | rs757077819  |
-1.884 | 1.0 | None | 0.773 | 0.556 | 0.894761999871 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | I | None | 0 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 5.43E-05 | 0 |
| I/S | rs757077819 |
-1.884 | 1.0 | None | 0.773 | 0.556 | 0.894761999871 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/S | rs757077819 |
-1.884 | 1.0 | None | 0.773 | 0.556 | 0.894761999871 | gnomAD-4.0.0 | 1.30308E-05 | None | None | None | None | I | None | 0 | 1.67302E-05 | None | 0 | 0 | None | 0 | 0 | 1.69654E-05 | 0 | 0 |
| I/T | None | None | 1.0 | None | 0.748 | 0.5 | 0.767813838711 | gnomAD-4.0.0 | 2.05567E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70067E-06 | 0 | 0 |
| I/V | rs373215746 |
-1.26 | 0.993 | None | 0.36 | 0.311 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs373215746 |
-1.26 | 0.993 | None | 0.36 | 0.311 | None | gnomAD-4.0.0 | 2.56861E-06 | None | None | None | None | I | None | 3.38215E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9917 | likely_pathogenic | 0.9916 | pathogenic | -1.559 | Destabilizing | 0.999 | D | 0.572 | neutral | None | None | None | None | I |
| I/C | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| I/D | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| I/E | 0.9898 | likely_pathogenic | 0.9892 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| I/F | 0.932 | likely_pathogenic | 0.9198 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| I/G | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| I/H | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| I/K | 0.9884 | likely_pathogenic | 0.9854 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| I/L | 0.74 | likely_pathogenic | 0.7581 | pathogenic | -0.739 | Destabilizing | 0.993 | D | 0.365 | neutral | None | None | None | None | I |
| I/M | 0.5977 | likely_pathogenic | 0.582 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| I/N | 0.979 | likely_pathogenic | 0.9752 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| I/P | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| I/Q | 0.9912 | likely_pathogenic | 0.9905 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| I/R | 0.9869 | likely_pathogenic | 0.9837 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| I/S | 0.9916 | likely_pathogenic | 0.9906 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| I/T | 0.9889 | likely_pathogenic | 0.9899 | pathogenic | -1.433 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| I/V | 0.6112 | likely_pathogenic | 0.6476 | pathogenic | -0.982 | Destabilizing | 0.993 | D | 0.36 | neutral | None | None | None | None | I |
| I/W | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| I/Y | 0.986 | likely_pathogenic | 0.9817 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
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.