Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19519 | 58780;58781;58782 | chr2:178593745;178593744;178593743 | chr2:179458472;179458471;179458470 |
| N2AB | 17878 | 53857;53858;53859 | chr2:178593745;178593744;178593743 | chr2:179458472;179458471;179458470 |
| N2A | 16951 | 51076;51077;51078 | chr2:178593745;178593744;178593743 | chr2:179458472;179458471;179458470 |
| N2B | 10454 | 31585;31586;31587 | chr2:178593745;178593744;178593743 | chr2:179458472;179458471;179458470 |
| Novex-1 | 10579 | 31960;31961;31962 | chr2:178593745;178593744;178593743 | chr2:179458472;179458471;179458470 |
| Novex-2 | 10646 | 32161;32162;32163 | chr2:178593745;178593744;178593743 | chr2:179458472;179458471;179458470 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs775586810  |
-2.557 | 0.999 | N | 0.712 | 0.457 | 0.440604514059 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| K/E | rs775586810 |
-2.557 | 0.999 | N | 0.712 | 0.457 | 0.440604514059 | gnomAD-4.0.0 | 1.59218E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85928E-06 | 0 | 0 |
| K/N | rs772071197 |
-2.497 | 1.0 | D | 0.824 | 0.441 | 0.256283259241 | 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 |
| K/N | rs772071197 |
-2.497 | 1.0 | D | 0.824 | 0.441 | 0.256283259241 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 0 | 2.28896E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9623 | likely_pathogenic | 0.9579 | pathogenic | -1.357 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| K/C | 0.9296 | likely_pathogenic | 0.9195 | pathogenic | -1.455 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| K/D | 0.9954 | likely_pathogenic | 0.9947 | pathogenic | -2.278 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| K/E | 0.9054 | likely_pathogenic | 0.8861 | pathogenic | -1.958 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | N | 0.505780096 | None | None | N |
| K/F | 0.982 | likely_pathogenic | 0.9799 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| K/G | 0.9664 | likely_pathogenic | 0.9684 | pathogenic | -1.845 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| K/H | 0.8509 | likely_pathogenic | 0.8431 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| K/I | 0.9011 | likely_pathogenic | 0.8765 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| K/L | 0.8559 | likely_pathogenic | 0.8272 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| K/M | 0.643 | likely_pathogenic | 0.5797 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.52128982 | None | None | N |
| K/N | 0.9778 | likely_pathogenic | 0.9756 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.523884351 | None | None | N |
| K/P | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| K/Q | 0.5373 | ambiguous | 0.4952 | ambiguous | -1.677 | Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.482902901 | None | None | N |
| K/R | 0.1552 | likely_benign | 0.1463 | benign | -1.0 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | N | 0.500029114 | None | None | N |
| K/S | 0.9759 | likely_pathogenic | 0.9735 | pathogenic | -2.524 | Highly Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| K/T | 0.9034 | likely_pathogenic | 0.8933 | pathogenic | -1.949 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.490522997 | None | None | N |
| K/V | 0.8676 | likely_pathogenic | 0.8408 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| K/W | 0.9657 | likely_pathogenic | 0.961 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| K/Y | 0.9091 | likely_pathogenic | 0.9144 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.863 | 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.