Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27398 | 82417;82418;82419 | chr2:178563940;178563939;178563938 | chr2:179428667;179428666;179428665 |
| N2AB | 25757 | 77494;77495;77496 | chr2:178563940;178563939;178563938 | chr2:179428667;179428666;179428665 |
| N2A | 24830 | 74713;74714;74715 | chr2:178563940;178563939;178563938 | chr2:179428667;179428666;179428665 |
| N2B | 18333 | 55222;55223;55224 | chr2:178563940;178563939;178563938 | chr2:179428667;179428666;179428665 |
| Novex-1 | 18458 | 55597;55598;55599 | chr2:178563940;178563939;178563938 | chr2:179428667;179428666;179428665 |
| Novex-2 | 18525 | 55798;55799;55800 | chr2:178563940;178563939;178563938 | chr2:179428667;179428666;179428665 |
| 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/A | None | None | 1.0 | N | 0.725 | 0.479 | 0.39619538035 | gnomAD-4.0.0 | 6.84239E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65656E-05 |
| G/D | rs1553574305  |
None | 1.0 | N | 0.839 | 0.521 | 0.449669948863 | gnomAD-4.0.0 | 1.36848E-06 | None | None | None | None | I | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99512E-07 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.806 | 0.504 | 0.390374949789 | 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 | 0.9175 | likely_pathogenic | 0.9339 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.511843255 | None | None | I |
| G/C | 0.9718 | likely_pathogenic | 0.9793 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.537962908 | None | None | I |
| G/D | 0.9924 | likely_pathogenic | 0.994 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.517830737 | None | None | I |
| G/E | 0.995 | likely_pathogenic | 0.9965 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/F | 0.9977 | likely_pathogenic | 0.9984 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/H | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/I | 0.9961 | likely_pathogenic | 0.9973 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/K | 0.996 | likely_pathogenic | 0.9972 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/L | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/M | 0.9979 | likely_pathogenic | 0.9986 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/N | 0.9944 | likely_pathogenic | 0.9956 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/Q | 0.9956 | likely_pathogenic | 0.9968 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/R | 0.9831 | likely_pathogenic | 0.9883 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.49915705 | None | None | I |
| G/S | 0.895 | likely_pathogenic | 0.9125 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.509183456 | None | None | I |
| G/T | 0.9868 | likely_pathogenic | 0.9896 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.992 | likely_pathogenic | 0.9943 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.526353113 | None | None | I |
| G/W | 0.9932 | likely_pathogenic | 0.9958 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Y | 0.9961 | likely_pathogenic | 0.9975 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.787 | 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.