Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19944 | 60055;60056;60057 | chr2:178592074;178592073;178592072 | chr2:179456801;179456800;179456799 |
| N2AB | 18303 | 55132;55133;55134 | chr2:178592074;178592073;178592072 | chr2:179456801;179456800;179456799 |
| N2A | 17376 | 52351;52352;52353 | chr2:178592074;178592073;178592072 | chr2:179456801;179456800;179456799 |
| N2B | 10879 | 32860;32861;32862 | chr2:178592074;178592073;178592072 | chr2:179456801;179456800;179456799 |
| Novex-1 | 11004 | 33235;33236;33237 | chr2:178592074;178592073;178592072 | chr2:179456801;179456800;179456799 |
| Novex-2 | 11071 | 33436;33437;33438 | chr2:178592074;178592073;178592072 | chr2:179456801;179456800;179456799 |
| 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/D | rs1202165350  |
-1.512 | 1.0 | N | 0.819 | 0.455 | 0.40417439687 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/D | rs1202165350 |
-1.512 | 1.0 | N | 0.819 | 0.455 | 0.40417439687 | gnomAD-4.0.0 | 3.1859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72023E-06 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.871 | 0.583 | 0.672205537301 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4542 | ambiguous | 0.5234 | ambiguous | -0.709 | Destabilizing | 0.999 | D | 0.666 | neutral | N | 0.499256999 | None | None | N |
| G/C | 0.5953 | likely_pathogenic | 0.6891 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.546874721 | None | None | N |
| G/D | 0.4555 | ambiguous | 0.5419 | ambiguous | -1.384 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.487215904 | None | None | N |
| G/E | 0.5609 | ambiguous | 0.6647 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/F | 0.8865 | likely_pathogenic | 0.9093 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/H | 0.7421 | likely_pathogenic | 0.8007 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/I | 0.8488 | likely_pathogenic | 0.8903 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/K | 0.7617 | likely_pathogenic | 0.8511 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/L | 0.823 | likely_pathogenic | 0.8484 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/M | 0.8067 | likely_pathogenic | 0.835 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/N | 0.3724 | ambiguous | 0.3916 | ambiguous | -0.878 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/P | 0.9838 | likely_pathogenic | 0.9907 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/Q | 0.6307 | likely_pathogenic | 0.7079 | pathogenic | -1.216 | Destabilizing | 0.997 | D | 0.656 | neutral | None | None | None | None | N |
| G/R | 0.6961 | likely_pathogenic | 0.7999 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.519109227 | None | None | N |
| G/S | 0.2504 | likely_benign | 0.2891 | benign | -1.006 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.501534724 | None | None | N |
| G/T | 0.5142 | ambiguous | 0.5796 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/V | 0.7566 | likely_pathogenic | 0.8162 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.519869696 | None | None | N |
| G/W | 0.7894 | likely_pathogenic | 0.8302 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/Y | 0.7876 | likely_pathogenic | 0.8237 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.849 | 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.