Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23507 | 70744;70745;70746 | chr2:178575613;178575612;178575611 | chr2:179440340;179440339;179440338 |
| N2AB | 21866 | 65821;65822;65823 | chr2:178575613;178575612;178575611 | chr2:179440340;179440339;179440338 |
| N2A | 20939 | 63040;63041;63042 | chr2:178575613;178575612;178575611 | chr2:179440340;179440339;179440338 |
| N2B | 14442 | 43549;43550;43551 | chr2:178575613;178575612;178575611 | chr2:179440340;179440339;179440338 |
| Novex-1 | 14567 | 43924;43925;43926 | chr2:178575613;178575612;178575611 | chr2:179440340;179440339;179440338 |
| Novex-2 | 14634 | 44125;44126;44127 | chr2:178575613;178575612;178575611 | chr2:179440340;179440339;179440338 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs764286640  |
-1.427 | 1.0 | N | 0.695 | 0.535 | 0.603876675548 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/L | rs764286640 |
-1.427 | 1.0 | N | 0.695 | 0.535 | 0.603876675548 | gnomAD-4.0.0 | 3.18322E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86599E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -2.951 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/C | 0.9847 | likely_pathogenic | 0.988 | pathogenic | -2.074 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.555037795 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.944 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.711 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| F/G | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -3.396 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| F/H | 0.9964 | likely_pathogenic | 0.9973 | pathogenic | -2.296 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| F/I | 0.9422 | likely_pathogenic | 0.9488 | pathogenic | -1.47 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.51144209 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.828 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/L | 0.988 | likely_pathogenic | 0.9895 | pathogenic | -1.47 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.515507468 | None | None | N |
| F/M | 0.9828 | likely_pathogenic | 0.9858 | pathogenic | -1.136 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| F/N | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -3.539 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.365 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.514 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/S | 0.9977 | likely_pathogenic | 0.9987 | pathogenic | -3.986 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.5663941 | None | None | N |
| F/T | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -3.631 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| F/V | 0.9517 | likely_pathogenic | 0.9593 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.506158489 | None | None | N |
| F/W | 0.9417 | likely_pathogenic | 0.9469 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| F/Y | 0.7658 | likely_pathogenic | 0.7983 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.593 | neutral | N | 0.519536847 | 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.