Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24876 | 74851;74852;74853 | chr2:178571506;178571505;178571504 | chr2:179436233;179436232;179436231 |
| N2AB | 23235 | 69928;69929;69930 | chr2:178571506;178571505;178571504 | chr2:179436233;179436232;179436231 |
| N2A | 22308 | 67147;67148;67149 | chr2:178571506;178571505;178571504 | chr2:179436233;179436232;179436231 |
| N2B | 15811 | 47656;47657;47658 | chr2:178571506;178571505;178571504 | chr2:179436233;179436232;179436231 |
| Novex-1 | 15936 | 48031;48032;48033 | chr2:178571506;178571505;178571504 | chr2:179436233;179436232;179436231 |
| Novex-2 | 16003 | 48232;48233;48234 | chr2:178571506;178571505;178571504 | chr2:179436233;179436232;179436231 |
| 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/A | None | None | 1.0 | N | 0.715 | 0.523 | 0.553267683787 | gnomAD-4.0.0 | 6.84417E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15961E-05 | 0 |
| G/E | None | None | 1.0 | N | 0.858 | 0.609 | 0.675668656152 | gnomAD-4.0.0 | 1.36883E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79921E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.847 | 0.679 | 0.658879190379 | gnomAD-4.0.0 | 6.84421E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99596E-07 | 0 | 0 |
| G/V | rs1348577140  |
-0.448 | 1.0 | D | 0.825 | 0.683 | 0.752647095843 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/V | rs1348577140 |
-0.448 | 1.0 | D | 0.825 | 0.683 | 0.752647095843 | gnomAD-4.0.0 | 2.73767E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59842E-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 | 0.5516 | ambiguous | 0.5484 | ambiguous | -0.418 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.497117405 | None | None | N |
| G/C | 0.6209 | likely_pathogenic | 0.6386 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/D | 0.532 | ambiguous | 0.544 | ambiguous | -0.792 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/E | 0.7384 | likely_pathogenic | 0.7472 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.504029939 | None | None | N |
| G/F | 0.9145 | likely_pathogenic | 0.9181 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/H | 0.7746 | likely_pathogenic | 0.7811 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/I | 0.9338 | likely_pathogenic | 0.9366 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/K | 0.8593 | likely_pathogenic | 0.8613 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/L | 0.8954 | likely_pathogenic | 0.8994 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/M | 0.9093 | likely_pathogenic | 0.9128 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/N | 0.4756 | ambiguous | 0.49 | ambiguous | -0.605 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/P | 0.99 | likely_pathogenic | 0.9905 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/Q | 0.7401 | likely_pathogenic | 0.75 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/R | 0.7442 | likely_pathogenic | 0.7433 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.533263463 | None | None | N |
| G/S | 0.2852 | likely_benign | 0.2839 | benign | -0.742 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/T | 0.6863 | likely_pathogenic | 0.6831 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/V | 0.8737 | likely_pathogenic | 0.8773 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.540771881 | None | None | N |
| G/W | 0.8407 | likely_pathogenic | 0.8516 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Y | 0.8456 | likely_pathogenic | 0.8532 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.799 | 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.