Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30328 | 91207;91208;91209 | chr2:178551918;178551917;178551916 | chr2:179416645;179416644;179416643 |
| N2AB | 28687 | 86284;86285;86286 | chr2:178551918;178551917;178551916 | chr2:179416645;179416644;179416643 |
| N2A | 27760 | 83503;83504;83505 | chr2:178551918;178551917;178551916 | chr2:179416645;179416644;179416643 |
| N2B | 21263 | 64012;64013;64014 | chr2:178551918;178551917;178551916 | chr2:179416645;179416644;179416643 |
| Novex-1 | 21388 | 64387;64388;64389 | chr2:178551918;178551917;178551916 | chr2:179416645;179416644;179416643 |
| Novex-2 | 21455 | 64588;64589;64590 | chr2:178551918;178551917;178551916 | chr2:179416645;179416644;179416643 |
| 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 | rs1441747901  |
-0.499 | 0.999 | D | 0.906 | 0.657 | 0.93358828677 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.28535E-03 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1441747901 |
-0.499 | 0.999 | D | 0.906 | 0.657 | 0.93358828677 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.86548E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1441747901 |
-0.499 | 0.999 | D | 0.906 | 0.657 | 0.93358828677 | gnomAD-4.0.0 | 1.85922E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.45772E-05 | None | 0 | 0 | 8.47669E-07 | 0 | 0 |
| P/Q | None | None | 1.0 | D | 0.841 | 0.691 | 0.894599402426 | gnomAD-4.0.0 | 6.84244E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65656E-05 |
| P/S | rs748271383 |
-2.876 | 0.998 | D | 0.78 | 0.707 | 0.738643885121 | 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 |
| P/S | rs748271383 |
-2.876 | 0.998 | D | 0.78 | 0.707 | 0.738643885121 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-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 | 0.5005 | ambiguous | 0.5757 | pathogenic | -2.287 | Highly Destabilizing | 0.767 | D | 0.664 | neutral | D | 0.584672298 | None | None | N |
| P/C | 0.9343 | likely_pathogenic | 0.9111 | pathogenic | -2.45 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| P/D | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -3.388 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/E | 0.9946 | likely_pathogenic | 0.9967 | pathogenic | -3.208 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/F | 0.9971 | likely_pathogenic | 0.9983 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| P/G | 0.9733 | likely_pathogenic | 0.9805 | pathogenic | -2.749 | Highly Destabilizing | 0.997 | D | 0.859 | deleterious | None | None | None | None | N |
| P/H | 0.9929 | likely_pathogenic | 0.996 | pathogenic | -2.221 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| P/I | 0.925 | likely_pathogenic | 0.943 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/K | 0.9968 | likely_pathogenic | 0.9981 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/L | 0.8664 | likely_pathogenic | 0.9115 | pathogenic | -1.003 | Destabilizing | 0.999 | D | 0.906 | deleterious | D | 0.63316435 | None | None | N |
| P/M | 0.973 | likely_pathogenic | 0.9809 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/N | 0.9974 | likely_pathogenic | 0.9981 | pathogenic | -2.316 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/Q | 0.9868 | likely_pathogenic | 0.992 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.649183711 | None | None | N |
| P/R | 0.9878 | likely_pathogenic | 0.9926 | pathogenic | -1.617 | Destabilizing | 0.999 | D | 0.905 | deleterious | D | 0.649385515 | None | None | N |
| P/S | 0.9267 | likely_pathogenic | 0.9457 | pathogenic | -2.846 | Highly Destabilizing | 0.998 | D | 0.78 | deleterious | D | 0.603911604 | None | None | N |
| P/T | 0.866 | likely_pathogenic | 0.8852 | pathogenic | -2.537 | Highly Destabilizing | 0.999 | D | 0.8 | deleterious | D | 0.633366155 | None | None | N |
| P/V | 0.7828 | likely_pathogenic | 0.7968 | pathogenic | -1.407 | Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| P/W | 0.9993 | likely_pathogenic | 0.9997 | pathogenic | -1.75 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/Y | 0.9985 | likely_pathogenic | 0.9993 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.942 | 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.