Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25825 | 77698;77699;77700 | chr2:178568659;178568658;178568657 | chr2:179433386;179433385;179433384 |
| N2AB | 24184 | 72775;72776;72777 | chr2:178568659;178568658;178568657 | chr2:179433386;179433385;179433384 |
| N2A | 23257 | 69994;69995;69996 | chr2:178568659;178568658;178568657 | chr2:179433386;179433385;179433384 |
| N2B | 16760 | 50503;50504;50505 | chr2:178568659;178568658;178568657 | chr2:179433386;179433385;179433384 |
| Novex-1 | 16885 | 50878;50879;50880 | chr2:178568659;178568658;178568657 | chr2:179433386;179433385;179433384 |
| Novex-2 | 16952 | 51079;51080;51081 | chr2:178568659;178568658;178568657 | chr2:179433386;179433385;179433384 |
| 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 | rs1177838501  |
-0.165 | 1.0 | D | 0.771 | 0.638 | 0.844690456794 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29668E-04 | 0 |
| P/R | rs1177838501 |
-0.165 | 1.0 | D | 0.771 | 0.638 | 0.844690456794 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/R | rs1177838501 |
-0.165 | 1.0 | D | 0.771 | 0.638 | 0.844690456794 | gnomAD-4.0.0 | 1.31537E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94152E-05 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.733 | 0.634 | 0.685599082871 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9746 | likely_pathogenic | 0.9686 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.554214188 | None | None | I |
| P/C | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| P/D | 0.9956 | likely_pathogenic | 0.9945 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| P/E | 0.992 | likely_pathogenic | 0.9902 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| P/F | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| P/G | 0.9895 | likely_pathogenic | 0.9873 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| P/H | 0.992 | likely_pathogenic | 0.9898 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.610617608 | None | None | I |
| P/I | 0.9865 | likely_pathogenic | 0.9846 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| P/K | 0.9923 | likely_pathogenic | 0.9911 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| P/L | 0.9612 | likely_pathogenic | 0.9559 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.652175081 | None | None | I |
| P/M | 0.9903 | likely_pathogenic | 0.9889 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| P/N | 0.9943 | likely_pathogenic | 0.9935 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| P/Q | 0.9878 | likely_pathogenic | 0.9854 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| P/R | 0.9847 | likely_pathogenic | 0.9815 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.626233361 | None | None | I |
| P/S | 0.9924 | likely_pathogenic | 0.9906 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.57164688 | None | None | I |
| P/T | 0.9771 | likely_pathogenic | 0.9732 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.619500586 | None | None | I |
| P/V | 0.9754 | likely_pathogenic | 0.9721 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| P/W | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| P/Y | 0.9975 | likely_pathogenic | 0.9969 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
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.