Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27394 | 82405;82406;82407 | chr2:178563952;178563951;178563950 | chr2:179428679;179428678;179428677 |
| N2AB | 25753 | 77482;77483;77484 | chr2:178563952;178563951;178563950 | chr2:179428679;179428678;179428677 |
| N2A | 24826 | 74701;74702;74703 | chr2:178563952;178563951;178563950 | chr2:179428679;179428678;179428677 |
| N2B | 18329 | 55210;55211;55212 | chr2:178563952;178563951;178563950 | chr2:179428679;179428678;179428677 |
| Novex-1 | 18454 | 55585;55586;55587 | chr2:178563952;178563951;178563950 | chr2:179428679;179428678;179428677 |
| Novex-2 | 18521 | 55786;55787;55788 | chr2:178563952;178563951;178563950 | chr2:179428679;179428678;179428677 |
| 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/S | None | None | 1.0 | D | 0.857 | 0.48 | 0.57803241275 | gnomAD-4.0.0 | 3.18284E-06 | None | None | None | None | N | None | 5.65675E-05 | 0 | None | 0 | 0 | None | 1.88232E-05 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.855 | 0.5 | 0.631643887469 | gnomAD-4.0.0 | 3.18284E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71732E-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 | 0.7461 | likely_pathogenic | 0.7663 | pathogenic | -2.072 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.59970587 | None | None | N |
| P/C | 0.9686 | likely_pathogenic | 0.9708 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/D | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.79 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/E | 0.9944 | likely_pathogenic | 0.9953 | pathogenic | -2.661 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/F | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/G | 0.9854 | likely_pathogenic | 0.9856 | pathogenic | -2.515 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/H | 0.9895 | likely_pathogenic | 0.9914 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.620045278 | None | None | N |
| P/I | 0.9626 | likely_pathogenic | 0.9728 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/K | 0.9967 | likely_pathogenic | 0.9972 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/L | 0.907 | likely_pathogenic | 0.9239 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.644342203 | None | None | N |
| P/M | 0.9874 | likely_pathogenic | 0.9893 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/N | 0.9965 | likely_pathogenic | 0.997 | pathogenic | -1.928 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/Q | 0.9878 | likely_pathogenic | 0.9903 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/R | 0.9866 | likely_pathogenic | 0.989 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.619843474 | None | None | N |
| P/S | 0.938 | likely_pathogenic | 0.9472 | pathogenic | -2.405 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.560530764 | None | None | N |
| P/T | 0.9308 | likely_pathogenic | 0.9371 | pathogenic | -2.169 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.599907674 | None | None | N |
| P/V | 0.8862 | likely_pathogenic | 0.9122 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/W | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/Y | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.899 | 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.