Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24693 | 74302;74303;74304 | chr2:178572055;178572054;178572053 | chr2:179436782;179436781;179436780 |
| N2AB | 23052 | 69379;69380;69381 | chr2:178572055;178572054;178572053 | chr2:179436782;179436781;179436780 |
| N2A | 22125 | 66598;66599;66600 | chr2:178572055;178572054;178572053 | chr2:179436782;179436781;179436780 |
| N2B | 15628 | 47107;47108;47109 | chr2:178572055;178572054;178572053 | chr2:179436782;179436781;179436780 |
| Novex-1 | 15753 | 47482;47483;47484 | chr2:178572055;178572054;178572053 | chr2:179436782;179436781;179436780 |
| Novex-2 | 15820 | 47683;47684;47685 | chr2:178572055;178572054;178572053 | chr2:179436782;179436781;179436780 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs372479952  |
-0.974 | 1.0 | N | 0.613 | 0.524 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66389E-04 |
| N/Y | rs770797051 |
-0.354 | 1.0 | D | 0.855 | 0.631 | 0.778369766822 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/Y | rs770797051 |
-0.354 | 1.0 | D | 0.855 | 0.631 | 0.778369766822 | gnomAD-4.0.0 | 1.36883E-06 | None | None | None | None | N | None | 0 | 4.47427E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| N/C | 0.9884 | likely_pathogenic | 0.9868 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| N/D | 0.9962 | likely_pathogenic | 0.9957 | pathogenic | -2.428 | Highly Destabilizing | 0.999 | D | 0.629 | neutral | N | 0.519256904 | None | None | N |
| N/E | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| N/G | 0.9958 | likely_pathogenic | 0.9946 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| N/H | 0.9944 | likely_pathogenic | 0.993 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.540185542 | None | None | N |
| N/I | 0.9979 | likely_pathogenic | 0.9973 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.558632192 | None | None | N |
| N/K | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.557364745 | None | None | N |
| N/L | 0.993 | likely_pathogenic | 0.9917 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| N/M | 0.9969 | likely_pathogenic | 0.9959 | pathogenic | 0.054 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| N/P | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| N/Q | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/R | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| N/S | 0.9672 | likely_pathogenic | 0.9554 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.505365703 | None | None | N |
| N/T | 0.9891 | likely_pathogenic | 0.9839 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.504930722 | None | None | N |
| N/V | 0.9969 | likely_pathogenic | 0.9959 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| N/Y | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.547022397 | 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.