Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1354 | 4285;4286;4287 | chr2:178779022;178779021;178779020 | chr2:179643749;179643748;179643747 |
| N2AB | 1354 | 4285;4286;4287 | chr2:178779022;178779021;178779020 | chr2:179643749;179643748;179643747 |
| N2A | 1354 | 4285;4286;4287 | chr2:178779022;178779021;178779020 | chr2:179643749;179643748;179643747 |
| N2B | 1308 | 4147;4148;4149 | chr2:178779022;178779021;178779020 | chr2:179643749;179643748;179643747 |
| Novex-1 | 1308 | 4147;4148;4149 | chr2:178779022;178779021;178779020 | chr2:179643749;179643748;179643747 |
| Novex-2 | 1308 | 4147;4148;4149 | chr2:178779022;178779021;178779020 | chr2:179643749;179643748;179643747 |
| Novex-3 | 1354 | 4285;4286;4287 | chr2:178779022;178779021;178779020 | chr2:179643749;179643748;179643747 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.977 | N | 0.514 | 0.506 | 0.613554143916 | gnomAD-4.0.0 | 1.59079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| V/F | None | None | 0.993 | D | 0.743 | 0.616 | 0.864902878786 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| V/I | rs752889135  |
-0.905 | 0.898 | N | 0.507 | 0.241 | 0.533904276971 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7138 | likely_pathogenic | 0.6916 | pathogenic | -2.362 | Highly Destabilizing | 0.977 | D | 0.514 | neutral | N | 0.465266379 | None | None | N |
| V/C | 0.9379 | likely_pathogenic | 0.9332 | pathogenic | -2.093 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/D | 0.9973 | likely_pathogenic | 0.9965 | pathogenic | -2.995 | Highly Destabilizing | 0.999 | D | 0.759 | deleterious | D | 0.694638978 | None | None | N |
| V/E | 0.9928 | likely_pathogenic | 0.9914 | pathogenic | -2.802 | Highly Destabilizing | 0.999 | D | 0.73 | prob.delet. | None | None | None | None | N |
| V/F | 0.9284 | likely_pathogenic | 0.9308 | pathogenic | -1.439 | Destabilizing | 0.993 | D | 0.743 | deleterious | D | 0.567017867 | None | None | N |
| V/G | 0.9284 | likely_pathogenic | 0.9179 | pathogenic | -2.852 | Highly Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.632697525 | None | None | N |
| V/H | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| V/I | 0.1262 | likely_benign | 0.1244 | benign | -0.997 | Destabilizing | 0.898 | D | 0.507 | neutral | N | 0.514280048 | None | None | N |
| V/K | 0.9964 | likely_pathogenic | 0.995 | pathogenic | -1.978 | Destabilizing | 0.998 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/L | 0.4805 | ambiguous | 0.4629 | ambiguous | -0.997 | Destabilizing | 0.117 | N | 0.305 | neutral | N | 0.463449667 | None | None | N |
| V/M | 0.7762 | likely_pathogenic | 0.7412 | pathogenic | -1.206 | Destabilizing | 0.995 | D | 0.747 | deleterious | None | None | None | None | N |
| V/N | 0.9876 | likely_pathogenic | 0.9832 | pathogenic | -2.278 | Highly Destabilizing | 0.999 | D | 0.768 | deleterious | None | None | None | None | N |
| V/P | 0.9676 | likely_pathogenic | 0.9639 | pathogenic | -1.426 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9924 | likely_pathogenic | 0.9901 | pathogenic | -2.179 | Highly Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| V/R | 0.9906 | likely_pathogenic | 0.9888 | pathogenic | -1.703 | Destabilizing | 0.998 | D | 0.766 | deleterious | None | None | None | None | N |
| V/S | 0.9341 | likely_pathogenic | 0.9167 | pathogenic | -2.875 | Highly Destabilizing | 0.998 | D | 0.71 | prob.delet. | None | None | None | None | N |
| V/T | 0.817 | likely_pathogenic | 0.7364 | pathogenic | -2.551 | Highly Destabilizing | 0.991 | D | 0.621 | neutral | None | None | None | None | N |
| V/W | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/Y | 0.995 | likely_pathogenic | 0.9953 | pathogenic | -1.562 | Destabilizing | 0.999 | D | 0.743 | 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.