Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23079 | 69460;69461;69462 | chr2:178577100;178577099;178577098 | chr2:179441827;179441826;179441825 |
| N2AB | 21438 | 64537;64538;64539 | chr2:178577100;178577099;178577098 | chr2:179441827;179441826;179441825 |
| N2A | 20511 | 61756;61757;61758 | chr2:178577100;178577099;178577098 | chr2:179441827;179441826;179441825 |
| N2B | 14014 | 42265;42266;42267 | chr2:178577100;178577099;178577098 | chr2:179441827;179441826;179441825 |
| Novex-1 | 14139 | 42640;42641;42642 | chr2:178577100;178577099;178577098 | chr2:179441827;179441826;179441825 |
| Novex-2 | 14206 | 42841;42842;42843 | chr2:178577100;178577099;178577098 | chr2:179441827;179441826;179441825 |
| 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 | None | None | 0.999 | D | 0.73 | 0.493 | 0.441017621159 | gnomAD-4.0.0 | 1.59212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85981E-06 | 0 | 0 |
| K/N | rs1234500748  |
-1.905 | 1.0 | D | 0.815 | 0.415 | 0.417460480802 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| K/N | rs1234500748 |
-1.905 | 1.0 | D | 0.815 | 0.415 | 0.417460480802 | gnomAD-4.0.0 | 1.5921E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85982E-06 | 0 | 0 |
| K/T | None | None | 1.0 | N | 0.81 | 0.562 | 0.435479573448 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9922 | likely_pathogenic | 0.9927 | pathogenic | -1.396 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| K/C | 0.9754 | likely_pathogenic | 0.9722 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| K/D | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| K/E | 0.9901 | likely_pathogenic | 0.9904 | pathogenic | -1.611 | Destabilizing | 0.999 | D | 0.73 | prob.delet. | D | 0.523719767 | None | None | N |
| K/F | 0.9965 | likely_pathogenic | 0.9961 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| K/G | 0.9907 | likely_pathogenic | 0.9931 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| K/H | 0.9297 | likely_pathogenic | 0.9211 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/I | 0.9822 | likely_pathogenic | 0.9818 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| K/L | 0.9688 | likely_pathogenic | 0.9668 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| K/M | 0.9375 | likely_pathogenic | 0.9327 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.478370224 | None | None | N |
| K/N | 0.996 | likely_pathogenic | 0.9964 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.535076072 | None | None | N |
| K/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| K/Q | 0.8977 | likely_pathogenic | 0.8871 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.49162586 | None | None | N |
| K/R | 0.203 | likely_benign | 0.1762 | benign | -0.697 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | N | 0.44938965 | None | None | N |
| K/S | 0.9956 | likely_pathogenic | 0.9958 | pathogenic | -2.334 | Highly Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| K/T | 0.9829 | likely_pathogenic | 0.9844 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.494473016 | None | None | N |
| K/V | 0.9724 | likely_pathogenic | 0.9717 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| K/W | 0.992 | likely_pathogenic | 0.9919 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| K/Y | 0.9755 | likely_pathogenic | 0.9758 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.874 | 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.