Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16927 | 51004;51005;51006 | chr2:178611450;178611449;178611448 | chr2:179476177;179476176;179476175 |
| N2AB | 15286 | 46081;46082;46083 | chr2:178611450;178611449;178611448 | chr2:179476177;179476176;179476175 |
| N2A | 14359 | 43300;43301;43302 | chr2:178611450;178611449;178611448 | chr2:179476177;179476176;179476175 |
| N2B | 7862 | 23809;23810;23811 | chr2:178611450;178611449;178611448 | chr2:179476177;179476176;179476175 |
| Novex-1 | 7987 | 24184;24185;24186 | chr2:178611450;178611449;178611448 | chr2:179476177;179476176;179476175 |
| Novex-2 | 8054 | 24385;24386;24387 | chr2:178611450;178611449;178611448 | chr2:179476177;179476176;179476175 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | None | None | 1.0 | D | 0.722 | 0.536 | 0.572657343838 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9761 | likely_pathogenic | 0.993 | pathogenic | -1.902 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| R/C | 0.7119 | likely_pathogenic | 0.9089 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| R/D | 0.998 | likely_pathogenic | 0.9992 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/E | 0.9717 | likely_pathogenic | 0.9902 | pathogenic | -0.828 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| R/F | 0.992 | likely_pathogenic | 0.9979 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| R/G | 0.9759 | likely_pathogenic | 0.9903 | pathogenic | -2.235 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.758803838 | None | None | N |
| R/H | 0.7176 | likely_pathogenic | 0.8948 | pathogenic | -2.132 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| R/I | 0.9575 | likely_pathogenic | 0.9916 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.656211294 | None | None | N |
| R/K | 0.6957 | likely_pathogenic | 0.8556 | pathogenic | -1.183 | Destabilizing | 0.997 | D | 0.633 | neutral | D | 0.600919621 | None | None | N |
| R/L | 0.9355 | likely_pathogenic | 0.9783 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| R/M | 0.9705 | likely_pathogenic | 0.9942 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| R/N | 0.9928 | likely_pathogenic | 0.9979 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| R/P | 0.9986 | likely_pathogenic | 0.9994 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/Q | 0.5501 | ambiguous | 0.8482 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/S | 0.9874 | likely_pathogenic | 0.9966 | pathogenic | -2.079 | Highly Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.615423229 | None | None | N |
| R/T | 0.9793 | likely_pathogenic | 0.9958 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.621701569 | None | None | N |
| R/V | 0.9542 | likely_pathogenic | 0.9911 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| R/W | 0.8981 | likely_pathogenic | 0.9685 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| R/Y | 0.9763 | likely_pathogenic | 0.9928 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.833 | 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.