Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17927 | 54004;54005;54006 | chr2:178605516;178605515;178605514 | chr2:179470243;179470242;179470241 |
| N2AB | 16286 | 49081;49082;49083 | chr2:178605516;178605515;178605514 | chr2:179470243;179470242;179470241 |
| N2A | 15359 | 46300;46301;46302 | chr2:178605516;178605515;178605514 | chr2:179470243;179470242;179470241 |
| N2B | 8862 | 26809;26810;26811 | chr2:178605516;178605515;178605514 | chr2:179470243;179470242;179470241 |
| Novex-1 | 8987 | 27184;27185;27186 | chr2:178605516;178605515;178605514 | chr2:179470243;179470242;179470241 |
| Novex-2 | 9054 | 27385;27386;27387 | chr2:178605516;178605515;178605514 | chr2:179470243;179470242;179470241 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | rs760629716  |
-1.224 | 0.999 | D | 0.828 | 0.732 | 0.802472304091 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs369678018 |
-1.965 | 1.0 | D | 0.864 | 0.914 | None | gnomAD-2.1.1 | 1.32377E-04 | None | None | None | None | N | None | 0 | 8.5E-05 | None | 0 | 0 | None | 0 | None | 1.99952E-04 | 2.27202E-04 | 0 |
| L/P | rs369678018 |
-1.965 | 1.0 | D | 0.864 | 0.914 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 2.41E-05 | 1.31199E-04 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 1.32478E-04 | 0 | 0 |
| L/P | rs369678018 |
-1.965 | 1.0 | D | 0.864 | 0.914 | None | gnomAD-4.0.0 | 1.60638E-04 | None | None | None | None | N | None | 1.33668E-05 | 6.67423E-05 | None | 0 | 0 | None | 2.49961E-04 | 0 | 1.95942E-04 | 0 | 1.12194E-04 |
| L/V | None | None | 0.999 | D | 0.835 | 0.73 | 0.815294641082 | gnomAD-4.0.0 | 1.36955E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16079E-05 | 1.65837E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8771 | likely_pathogenic | 0.8905 | pathogenic | -2.681 | Highly Destabilizing | 0.999 | D | 0.832 | deleterious | None | None | None | None | N |
| L/C | 0.7811 | likely_pathogenic | 0.7812 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| L/D | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -2.586 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| L/E | 0.9913 | likely_pathogenic | 0.9958 | pathogenic | -2.41 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| L/F | 0.9138 | likely_pathogenic | 0.9267 | pathogenic | -1.774 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.627829897 | None | None | N |
| L/G | 0.9787 | likely_pathogenic | 0.9833 | pathogenic | -3.203 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| L/H | 0.9887 | likely_pathogenic | 0.9927 | pathogenic | -2.461 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.654175226 | None | None | N |
| L/I | 0.3517 | ambiguous | 0.3925 | ambiguous | -1.193 | Destabilizing | 0.999 | D | 0.828 | deleterious | D | 0.607086881 | None | None | N |
| L/K | 0.9904 | likely_pathogenic | 0.9946 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| L/M | 0.431 | ambiguous | 0.463 | ambiguous | -1.132 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| L/N | 0.9876 | likely_pathogenic | 0.9923 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| L/P | 0.9902 | likely_pathogenic | 0.992 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.638155865 | None | None | N |
| L/Q | 0.978 | likely_pathogenic | 0.9873 | pathogenic | -2.193 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| L/R | 0.9777 | likely_pathogenic | 0.9868 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.628637114 | None | None | N |
| L/S | 0.985 | likely_pathogenic | 0.9892 | pathogenic | -3.022 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| L/T | 0.8379 | likely_pathogenic | 0.8752 | pathogenic | -2.691 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| L/V | 0.3283 | likely_benign | 0.3798 | ambiguous | -1.667 | Destabilizing | 0.999 | D | 0.835 | deleterious | D | 0.577480528 | None | None | N |
| L/W | 0.9886 | likely_pathogenic | 0.9924 | pathogenic | -2.013 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| L/Y | 0.9898 | likely_pathogenic | 0.9929 | pathogenic | -1.775 | Destabilizing | 1.0 | D | 0.836 | 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.