Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32178 | 96757;96758;96759 | chr2:178543441;178543440;178543439 | chr2:179408168;179408167;179408166 |
| N2AB | 30537 | 91834;91835;91836 | chr2:178543441;178543440;178543439 | chr2:179408168;179408167;179408166 |
| N2A | 29610 | 89053;89054;89055 | chr2:178543441;178543440;178543439 | chr2:179408168;179408167;179408166 |
| N2B | 23113 | 69562;69563;69564 | chr2:178543441;178543440;178543439 | chr2:179408168;179408167;179408166 |
| Novex-1 | 23238 | 69937;69938;69939 | chr2:178543441;178543440;178543439 | chr2:179408168;179408167;179408166 |
| Novex-2 | 23305 | 70138;70139;70140 | chr2:178543441;178543440;178543439 | chr2:179408168;179408167;179408166 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | None | None | 1.0 | N | 0.737 | 0.636 | 0.401042353794 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85829E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9888 | likely_pathogenic | 0.9849 | pathogenic | -1.894 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| R/C | 0.8055 | likely_pathogenic | 0.7388 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| R/D | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| R/E | 0.9801 | likely_pathogenic | 0.9737 | pathogenic | -0.786 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| R/F | 0.9977 | likely_pathogenic | 0.9965 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| R/G | 0.9859 | likely_pathogenic | 0.9801 | pathogenic | -2.244 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.536373654 | None | None | N |
| R/H | 0.7043 | likely_pathogenic | 0.6531 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| R/I | 0.9869 | likely_pathogenic | 0.9791 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.506913094 | None | None | N |
| R/K | 0.6864 | likely_pathogenic | 0.6761 | pathogenic | -1.323 | Destabilizing | 0.995 | D | 0.661 | neutral | N | 0.485197533 | None | None | N |
| R/L | 0.9711 | likely_pathogenic | 0.9561 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/M | 0.9878 | likely_pathogenic | 0.9823 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| R/N | 0.9954 | likely_pathogenic | 0.9936 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| R/P | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| R/Q | 0.6141 | likely_pathogenic | 0.5662 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/S | 0.9908 | likely_pathogenic | 0.9872 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.50361773 | None | None | N |
| R/T | 0.989 | likely_pathogenic | 0.9845 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.493021893 | None | None | N |
| R/V | 0.9863 | likely_pathogenic | 0.9786 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| R/W | 0.9526 | likely_pathogenic | 0.9217 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/Y | 0.9892 | likely_pathogenic | 0.9844 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.833 | 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.