Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29555 | 88888;88889;88890 | chr2:178554684;178554683;178554682 | chr2:179419411;179419410;179419409 |
| N2AB | 27914 | 83965;83966;83967 | chr2:178554684;178554683;178554682 | chr2:179419411;179419410;179419409 |
| N2A | 26987 | 81184;81185;81186 | chr2:178554684;178554683;178554682 | chr2:179419411;179419410;179419409 |
| N2B | 20490 | 61693;61694;61695 | chr2:178554684;178554683;178554682 | chr2:179419411;179419410;179419409 |
| Novex-1 | 20615 | 62068;62069;62070 | chr2:178554684;178554683;178554682 | chr2:179419411;179419410;179419409 |
| Novex-2 | 20682 | 62269;62270;62271 | chr2:178554684;178554683;178554682 | chr2:179419411;179419410;179419409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/S | None | None | 1.0 | D | 0.868 | 0.842 | 0.899195765859 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -3.109 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/C | 0.9963 | likely_pathogenic | 0.9968 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.656427228 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.805 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.689 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/F | 0.7316 | likely_pathogenic | 0.6838 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/G | 0.9841 | likely_pathogenic | 0.9873 | pathogenic | -3.343 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.656427228 | None | None | N |
| W/H | 0.996 | likely_pathogenic | 0.996 | pathogenic | -2.745 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/I | 0.9903 | likely_pathogenic | 0.9894 | pathogenic | -2.205 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.991 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/L | 0.9654 | likely_pathogenic | 0.9623 | pathogenic | -2.205 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.655216403 | None | None | N |
| W/M | 0.9951 | likely_pathogenic | 0.9948 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.772 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/P | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.527 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.885 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.656427228 | None | None | N |
| W/S | 0.9956 | likely_pathogenic | 0.9963 | pathogenic | -3.775 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.640175703 | None | None | N |
| W/T | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -3.581 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/V | 0.9918 | likely_pathogenic | 0.9916 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/Y | 0.9445 | likely_pathogenic | 0.9411 | pathogenic | -2.102 | Highly Destabilizing | 1.0 | D | 0.856 | 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.