Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6923 | 20992;20993;20994 | chr2:178725437;178725436;178725435 | chr2:179590164;179590163;179590162 |
| N2AB | 6606 | 20041;20042;20043 | chr2:178725437;178725436;178725435 | chr2:179590164;179590163;179590162 |
| N2A | 5679 | 17260;17261;17262 | chr2:178725437;178725436;178725435 | chr2:179590164;179590163;179590162 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs753447017  |
-0.788 | 1.0 | D | 0.864 | 0.66 | 0.852309033255 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs753447017 |
-0.788 | 1.0 | D | 0.864 | 0.66 | 0.852309033255 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs753447017 |
-0.788 | 1.0 | D | 0.864 | 0.66 | 0.852309033255 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | I | None | 2.4122E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.4294 | ambiguous | 0.3462 | ambiguous | -0.644 | Destabilizing | 0.998 | D | 0.783 | deleterious | D | 0.583988318 | None | None | I |
| G/C | 0.825 | likely_pathogenic | 0.7688 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/D | 0.8187 | likely_pathogenic | 0.8222 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/E | 0.8545 | likely_pathogenic | 0.8552 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.62837105 | None | None | I |
| G/F | 0.9756 | likely_pathogenic | 0.9731 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/H | 0.9586 | likely_pathogenic | 0.9581 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9686 | likely_pathogenic | 0.9648 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/K | 0.9462 | likely_pathogenic | 0.9504 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/L | 0.9545 | likely_pathogenic | 0.9442 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/M | 0.9643 | likely_pathogenic | 0.9565 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.8958 | likely_pathogenic | 0.8916 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/P | 0.9956 | likely_pathogenic | 0.996 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.8784 | likely_pathogenic | 0.8779 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/R | 0.864 | likely_pathogenic | 0.8712 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.628169246 | None | None | I |
| G/S | 0.3799 | ambiguous | 0.3358 | benign | -1.137 | Destabilizing | 0.993 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/T | 0.8341 | likely_pathogenic | 0.8105 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.9121 | likely_pathogenic | 0.9006 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.62837105 | None | None | I |
| G/W | 0.9537 | likely_pathogenic | 0.9565 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Y | 0.967 | likely_pathogenic | 0.9655 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.849 | 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.