Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20970 | 63133;63134;63135 | chr2:178588817;178588816;178588815 | chr2:179453544;179453543;179453542 |
| N2AB | 19329 | 58210;58211;58212 | chr2:178588817;178588816;178588815 | chr2:179453544;179453543;179453542 |
| N2A | 18402 | 55429;55430;55431 | chr2:178588817;178588816;178588815 | chr2:179453544;179453543;179453542 |
| N2B | 11905 | 35938;35939;35940 | chr2:178588817;178588816;178588815 | chr2:179453544;179453543;179453542 |
| Novex-1 | 12030 | 36313;36314;36315 | chr2:178588817;178588816;178588815 | chr2:179453544;179453543;179453542 |
| Novex-2 | 12097 | 36514;36515;36516 | chr2:178588817;178588816;178588815 | chr2:179453544;179453543;179453542 |
| 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/L | None | None | 1.0 | N | 0.883 | 0.465 | 0.601200029762 | gnomAD-4.0.0 | 1.36876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79921E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7131 | likely_pathogenic | 0.6875 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.511616219 | None | None | N |
| P/C | 0.9517 | likely_pathogenic | 0.9468 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.203 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/E | 0.9976 | likely_pathogenic | 0.9976 | pathogenic | -2.984 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/F | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/G | 0.9912 | likely_pathogenic | 0.9897 | pathogenic | -2.815 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/H | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -2.483 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/I | 0.8108 | likely_pathogenic | 0.835 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/K | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/L | 0.67 | likely_pathogenic | 0.6713 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.473049127 | None | None | N |
| P/M | 0.9551 | likely_pathogenic | 0.9527 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.31 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/Q | 0.9949 | likely_pathogenic | 0.995 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.544724084 | None | None | N |
| P/R | 0.9961 | likely_pathogenic | 0.9964 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.544724084 | None | None | N |
| P/S | 0.9849 | likely_pathogenic | 0.9819 | pathogenic | -2.865 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.533114289 | None | None | N |
| P/T | 0.926 | likely_pathogenic | 0.9208 | pathogenic | -2.51 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.544217105 | None | None | N |
| P/V | 0.5846 | likely_pathogenic | 0.609 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.893 | 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.