Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29803 | 89632;89633;89634 | chr2:178553598;178553597;178553596 | chr2:179418325;179418324;179418323 |
| N2AB | 28162 | 84709;84710;84711 | chr2:178553598;178553597;178553596 | chr2:179418325;179418324;179418323 |
| N2A | 27235 | 81928;81929;81930 | chr2:178553598;178553597;178553596 | chr2:179418325;179418324;179418323 |
| N2B | 20738 | 62437;62438;62439 | chr2:178553598;178553597;178553596 | chr2:179418325;179418324;179418323 |
| Novex-1 | 20863 | 62812;62813;62814 | chr2:178553598;178553597;178553596 | chr2:179418325;179418324;179418323 |
| Novex-2 | 20930 | 63013;63014;63015 | chr2:178553598;178553597;178553596 | chr2:179418325;179418324;179418323 |
| 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 | rs1264984362  |
None | 0.988 | N | 0.831 | 0.455 | 0.425499470309 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| G/E | rs1264984362 |
None | 0.988 | N | 0.831 | 0.455 | 0.425499470309 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| G/V | rs1264984362 |
None | 0.976 | N | 0.808 | 0.472 | 0.672303946791 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs1264984362 |
None | 0.976 | N | 0.808 | 0.472 | 0.672303946791 | gnomAD-4.0.0 | 1.23933E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69516E-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 | 0.1792 | likely_benign | 0.1495 | benign | -0.437 | Destabilizing | 0.067 | N | 0.473 | neutral | D | 0.524394415 | None | None | N |
| G/C | 0.3065 | likely_benign | 0.3004 | benign | -0.88 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| G/D | 0.1861 | likely_benign | 0.1948 | benign | -1.005 | Destabilizing | 0.991 | D | 0.788 | deleterious | None | None | None | None | N |
| G/E | 0.2295 | likely_benign | 0.2335 | benign | -1.157 | Destabilizing | 0.988 | D | 0.831 | deleterious | N | 0.482140249 | None | None | N |
| G/F | 0.6803 | likely_pathogenic | 0.6528 | pathogenic | -1.082 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| G/H | 0.445 | ambiguous | 0.4582 | ambiguous | -0.755 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/I | 0.5412 | ambiguous | 0.4895 | ambiguous | -0.487 | Destabilizing | 0.991 | D | 0.858 | deleterious | None | None | None | None | N |
| G/K | 0.5151 | ambiguous | 0.5117 | ambiguous | -1.125 | Destabilizing | 0.991 | D | 0.834 | deleterious | None | None | None | None | N |
| G/L | 0.4964 | ambiguous | 0.4662 | ambiguous | -0.487 | Destabilizing | 0.982 | D | 0.807 | deleterious | None | None | None | None | N |
| G/M | 0.5133 | ambiguous | 0.4903 | ambiguous | -0.487 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/N | 0.2109 | likely_benign | 0.2259 | benign | -0.716 | Destabilizing | 0.991 | D | 0.826 | deleterious | None | None | None | None | N |
| G/P | 0.9156 | likely_pathogenic | 0.8943 | pathogenic | -0.435 | Destabilizing | 0.995 | D | 0.863 | deleterious | None | None | None | None | N |
| G/Q | 0.345 | ambiguous | 0.3574 | ambiguous | -1.021 | Destabilizing | 0.995 | D | 0.87 | deleterious | None | None | None | None | N |
| G/R | 0.4151 | ambiguous | 0.4075 | ambiguous | -0.603 | Destabilizing | 0.988 | D | 0.867 | deleterious | N | 0.505777912 | None | None | N |
| G/S | 0.1385 | likely_benign | 0.1292 | benign | -0.817 | Destabilizing | 0.484 | N | 0.47 | neutral | None | None | None | None | N |
| G/T | 0.2319 | likely_benign | 0.2135 | benign | -0.907 | Destabilizing | 0.982 | D | 0.801 | deleterious | None | None | None | None | N |
| G/V | 0.3913 | ambiguous | 0.3426 | ambiguous | -0.435 | Destabilizing | 0.976 | D | 0.808 | deleterious | N | 0.514932172 | None | None | N |
| G/W | 0.5265 | ambiguous | 0.504 | ambiguous | -1.269 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/Y | 0.5169 | ambiguous | 0.5195 | ambiguous | -0.93 | Destabilizing | 1.0 | D | 0.868 | 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.