Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16775 | 50548;50549;50550 | chr2:178612088;178612087;178612086 | chr2:179476815;179476814;179476813 |
| N2AB | 15134 | 45625;45626;45627 | chr2:178612088;178612087;178612086 | chr2:179476815;179476814;179476813 |
| N2A | 14207 | 42844;42845;42846 | chr2:178612088;178612087;178612086 | chr2:179476815;179476814;179476813 |
| N2B | 7710 | 23353;23354;23355 | chr2:178612088;178612087;178612086 | chr2:179476815;179476814;179476813 |
| Novex-1 | 7835 | 23728;23729;23730 | chr2:178612088;178612087;178612086 | chr2:179476815;179476814;179476813 |
| Novex-2 | 7902 | 23929;23930;23931 | chr2:178612088;178612087;178612086 | chr2:179476815;179476814;179476813 |
| 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/A | None | None | 1.0 | D | 0.817 | 0.457 | 0.473538153929 | gnomAD-4.0.0 | 6.8507E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00145E-07 | 0 | 0 |
| P/L | rs1331633157  |
-0.643 | 1.0 | D | 0.894 | 0.489 | 0.695940529277 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.68011E-04 |
| P/L | rs1331633157 |
-0.643 | 1.0 | D | 0.894 | 0.489 | 0.695940529277 | gnomAD-4.0.0 | 3.19195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86505E-06 | 0 | 3.03435E-05 |
| P/T | None | None | 1.0 | D | 0.843 | 0.464 | 0.52628473709 | gnomAD-4.0.0 | 6.8507E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.54065E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9461 | likely_pathogenic | 0.9334 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.661641682 | None | None | N |
| P/C | 0.9958 | likely_pathogenic | 0.9944 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -2.652 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/G | 0.9937 | likely_pathogenic | 0.9925 | pathogenic | -2.533 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/H | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -2.397 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.714823747 | None | None | N |
| P/I | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/K | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.845 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/L | 0.9925 | likely_pathogenic | 0.9895 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.747234334 | None | None | N |
| P/M | 0.999 | likely_pathogenic | 0.9985 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/Q | 0.9981 | likely_pathogenic | 0.9974 | pathogenic | -1.929 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/R | 0.9977 | likely_pathogenic | 0.997 | pathogenic | -1.536 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.691933687 | None | None | N |
| P/S | 0.9895 | likely_pathogenic | 0.9873 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.602996934 | None | None | N |
| P/T | 0.9922 | likely_pathogenic | 0.9893 | pathogenic | -2.21 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.67502701 | None | None | N |
| P/V | 0.9924 | likely_pathogenic | 0.9902 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.928 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.885 | 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.