Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15831 | 47716;47717;47718 | chr2:178617860;178617859;178617858 | chr2:179482587;179482586;179482585 |
| N2AB | 14190 | 42793;42794;42795 | chr2:178617860;178617859;178617858 | chr2:179482587;179482586;179482585 |
| N2A | 13263 | 40012;40013;40014 | chr2:178617860;178617859;178617858 | chr2:179482587;179482586;179482585 |
| N2B | 6766 | 20521;20522;20523 | chr2:178617860;178617859;178617858 | chr2:179482587;179482586;179482585 |
| Novex-1 | 6891 | 20896;20897;20898 | chr2:178617860;178617859;178617858 | chr2:179482587;179482586;179482585 |
| Novex-2 | 6958 | 21097;21098;21099 | chr2:178617860;178617859;178617858 | chr2:179482587;179482586;179482585 |
| 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 | rs1254678591  |
-0.818 | 0.999 | D | 0.681 | 0.539 | 0.373537453441 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1254678591 |
-0.818 | 0.999 | D | 0.681 | 0.539 | 0.373537453441 | gnomAD-4.0.0 | 1.59364E-06 | None | None | None | None | N | None | 0 | 2.28885E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9964 | likely_pathogenic | 0.9962 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/C | 0.9758 | likely_pathogenic | 0.9723 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.788494423 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.2 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.947 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/G | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.81 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/H | 0.9965 | likely_pathogenic | 0.9966 | pathogenic | -1.89 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/I | 0.9021 | likely_pathogenic | 0.8928 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.602594916 | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/L | 0.9896 | likely_pathogenic | 0.9876 | pathogenic | -0.766 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | D | 0.63006122 | None | None | N |
| F/M | 0.9702 | likely_pathogenic | 0.966 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/N | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.699 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.453 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/R | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/S | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -3.151 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.788494423 | None | None | N |
| F/T | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.768 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/V | 0.9075 | likely_pathogenic | 0.8969 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.581187225 | None | None | N |
| F/W | 0.9458 | likely_pathogenic | 0.9479 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/Y | 0.712 | likely_pathogenic | 0.7243 | pathogenic | -0.548 | Destabilizing | 0.999 | D | 0.596 | neutral | D | 0.632274821 | 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.