Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28886 | 86881;86882;86883 | chr2:178559476;178559475;178559474 | chr2:179424203;179424202;179424201 |
| N2AB | 27245 | 81958;81959;81960 | chr2:178559476;178559475;178559474 | chr2:179424203;179424202;179424201 |
| N2A | 26318 | 79177;79178;79179 | chr2:178559476;178559475;178559474 | chr2:179424203;179424202;179424201 |
| N2B | 19821 | 59686;59687;59688 | chr2:178559476;178559475;178559474 | chr2:179424203;179424202;179424201 |
| Novex-1 | 19946 | 60061;60062;60063 | chr2:178559476;178559475;178559474 | chr2:179424203;179424202;179424201 |
| Novex-2 | 20013 | 60262;60263;60264 | chr2:178559476;178559475;178559474 | chr2:179424203;179424202;179424201 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs760858743  |
-1.325 | 0.996 | N | 0.481 | 0.194 | 0.27479166964 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| E/D | rs760858743 |
-1.325 | 0.996 | N | 0.481 | 0.194 | 0.27479166964 | gnomAD-4.0.0 | 6.84256E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99518E-07 | 0 | 0 |
| E/Q | None | None | 1.0 | N | 0.608 | 0.353 | 0.361958692863 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85871E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7106 | likely_pathogenic | 0.6188 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.65 | neutral | D | 0.5246582 | None | None | N |
| E/C | 0.9873 | likely_pathogenic | 0.9834 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/D | 0.5272 | ambiguous | 0.4744 | ambiguous | -1.147 | Destabilizing | 0.996 | D | 0.481 | neutral | N | 0.430209243 | None | None | N |
| E/F | 0.9896 | likely_pathogenic | 0.9841 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| E/G | 0.842 | likely_pathogenic | 0.7787 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.525351633 | None | None | N |
| E/H | 0.9701 | likely_pathogenic | 0.9531 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| E/I | 0.9226 | likely_pathogenic | 0.8851 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| E/K | 0.8719 | likely_pathogenic | 0.7961 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.557 | neutral | N | 0.480077916 | None | None | N |
| E/L | 0.8879 | likely_pathogenic | 0.8343 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| E/M | 0.9136 | likely_pathogenic | 0.8727 | pathogenic | 0.605 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| E/N | 0.9123 | likely_pathogenic | 0.881 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| E/P | 0.9607 | likely_pathogenic | 0.9378 | pathogenic | -0.138 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| E/Q | 0.706 | likely_pathogenic | 0.6151 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.608 | neutral | N | 0.507821878 | None | None | N |
| E/R | 0.9364 | likely_pathogenic | 0.8946 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| E/S | 0.875 | likely_pathogenic | 0.8323 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | N |
| E/T | 0.9159 | likely_pathogenic | 0.8775 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/V | 0.8208 | likely_pathogenic | 0.7451 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.479348183 | None | None | N |
| E/W | 0.9963 | likely_pathogenic | 0.994 | pathogenic | 0.109 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/Y | 0.9818 | likely_pathogenic | 0.9713 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.784 | 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.