Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25488 | 76687;76688;76689 | chr2:178569670;178569669;178569668 | chr2:179434397;179434396;179434395 |
| N2AB | 23847 | 71764;71765;71766 | chr2:178569670;178569669;178569668 | chr2:179434397;179434396;179434395 |
| N2A | 22920 | 68983;68984;68985 | chr2:178569670;178569669;178569668 | chr2:179434397;179434396;179434395 |
| N2B | 16423 | 49492;49493;49494 | chr2:178569670;178569669;178569668 | chr2:179434397;179434396;179434395 |
| Novex-1 | 16548 | 49867;49868;49869 | chr2:178569670;178569669;178569668 | chr2:179434397;179434396;179434395 |
| Novex-2 | 16615 | 50068;50069;50070 | chr2:178569670;178569669;178569668 | chr2:179434397;179434396;179434395 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1559382837  |
None | 1.0 | D | 0.902 | 0.735 | 0.683146713576 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| G/E | rs1559382837 |
None | 1.0 | D | 0.902 | 0.735 | 0.683146713576 | gnomAD-4.0.0 | 1.59394E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03067E-05 |
| G/R | None | None | 1.0 | D | 0.907 | 0.748 | 0.775912761061 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6703 | likely_pathogenic | 0.6886 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.541150275 | None | None | I |
| G/C | 0.836 | likely_pathogenic | 0.8519 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/D | 0.8786 | likely_pathogenic | 0.8974 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | I |
| G/E | 0.9161 | likely_pathogenic | 0.9233 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.540643296 | None | None | I |
| G/F | 0.9806 | likely_pathogenic | 0.9799 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/H | 0.9643 | likely_pathogenic | 0.9674 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/I | 0.9741 | likely_pathogenic | 0.973 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/K | 0.9633 | likely_pathogenic | 0.962 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/L | 0.9673 | likely_pathogenic | 0.968 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/M | 0.972 | likely_pathogenic | 0.9726 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/N | 0.9302 | likely_pathogenic | 0.9368 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/P | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/Q | 0.9323 | likely_pathogenic | 0.9334 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | I |
| G/R | 0.9148 | likely_pathogenic | 0.9109 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.552164185 | None | None | I |
| G/S | 0.5269 | ambiguous | 0.5726 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/T | 0.8751 | likely_pathogenic | 0.8836 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/V | 0.9387 | likely_pathogenic | 0.9366 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.526933587 | None | None | I |
| G/W | 0.9634 | likely_pathogenic | 0.9626 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/Y | 0.9652 | likely_pathogenic | 0.9654 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
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.