Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19472 | 58639;58640;58641 | chr2:178593979;178593978;178593977 | chr2:179458706;179458705;179458704 |
| N2AB | 17831 | 53716;53717;53718 | chr2:178593979;178593978;178593977 | chr2:179458706;179458705;179458704 |
| N2A | 16904 | 50935;50936;50937 | chr2:178593979;178593978;178593977 | chr2:179458706;179458705;179458704 |
| N2B | 10407 | 31444;31445;31446 | chr2:178593979;178593978;178593977 | chr2:179458706;179458705;179458704 |
| Novex-1 | 10532 | 31819;31820;31821 | chr2:178593979;178593978;178593977 | chr2:179458706;179458705;179458704 |
| Novex-2 | 10599 | 32020;32021;32022 | chr2:178593979;178593978;178593977 | chr2:179458706;179458705;179458704 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 1.0 | N | 0.884 | 0.476 | 0.837662136559 | gnomAD-4.0.0 | 2.05307E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69874E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7872 | likely_pathogenic | 0.7691 | pathogenic | -1.652 | Destabilizing | 0.998 | D | 0.597 | neutral | None | None | None | None | N |
| C/D | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| C/F | 0.6452 | likely_pathogenic | 0.6132 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.884 | deleterious | N | 0.507198307 | None | None | N |
| C/G | 0.7361 | likely_pathogenic | 0.7088 | pathogenic | -2.03 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.49697341 | None | None | N |
| C/H | 0.9925 | likely_pathogenic | 0.9909 | pathogenic | -2.294 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| C/I | 0.6719 | likely_pathogenic | 0.6704 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| C/L | 0.6894 | likely_pathogenic | 0.6789 | pathogenic | -0.631 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| C/M | 0.9097 | likely_pathogenic | 0.9152 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| C/N | 0.9946 | likely_pathogenic | 0.9943 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| C/P | 0.9972 | likely_pathogenic | 0.9966 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| C/Q | 0.9955 | likely_pathogenic | 0.9946 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| C/R | 0.992 | likely_pathogenic | 0.9884 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.515077665 | None | None | N |
| C/S | 0.8606 | likely_pathogenic | 0.8544 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.491186512 | None | None | N |
| C/T | 0.905 | likely_pathogenic | 0.9033 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| C/V | 0.5681 | likely_pathogenic | 0.5617 | ambiguous | -0.948 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| C/W | 0.9705 | likely_pathogenic | 0.9649 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.515331154 | None | None | N |
| C/Y | 0.929 | likely_pathogenic | 0.9176 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.530691243 | 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.