Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26112 | 78559;78560;78561 | chr2:178567798;178567797;178567796 | chr2:179432525;179432524;179432523 |
| N2AB | 24471 | 73636;73637;73638 | chr2:178567798;178567797;178567796 | chr2:179432525;179432524;179432523 |
| N2A | 23544 | 70855;70856;70857 | chr2:178567798;178567797;178567796 | chr2:179432525;179432524;179432523 |
| N2B | 17047 | 51364;51365;51366 | chr2:178567798;178567797;178567796 | chr2:179432525;179432524;179432523 |
| Novex-1 | 17172 | 51739;51740;51741 | chr2:178567798;178567797;178567796 | chr2:179432525;179432524;179432523 |
| Novex-2 | 17239 | 51940;51941;51942 | chr2:178567798;178567797;178567796 | chr2:179432525;179432524;179432523 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | D | 0.887 | 0.764 | 0.879588553196 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85958E-06 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.85 | 0.737 | 0.835049036447 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 2.99007E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8956 | likely_pathogenic | 0.8517 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.596753784 | None | None | N |
| P/C | 0.9952 | likely_pathogenic | 0.9926 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/D | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/E | 0.9973 | likely_pathogenic | 0.9963 | pathogenic | -2.454 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/G | 0.9867 | likely_pathogenic | 0.9836 | pathogenic | -2.373 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/H | 0.9978 | likely_pathogenic | 0.9966 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.651716086 | None | None | N |
| P/I | 0.997 | likely_pathogenic | 0.9962 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/L | 0.9807 | likely_pathogenic | 0.9772 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.642227695 | None | None | N |
| P/M | 0.9971 | likely_pathogenic | 0.9962 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/N | 0.998 | likely_pathogenic | 0.997 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/Q | 0.997 | likely_pathogenic | 0.9959 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/R | 0.9966 | likely_pathogenic | 0.9956 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.635696725 | None | None | N |
| P/S | 0.9832 | likely_pathogenic | 0.9697 | pathogenic | -2.183 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.560828984 | None | None | N |
| P/T | 0.979 | likely_pathogenic | 0.9697 | pathogenic | -2.01 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.616689584 | None | None | N |
| P/V | 0.9873 | likely_pathogenic | 0.9837 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.897 | 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.