Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5318 | 16177;16178;16179 | chr2:178733341;178733340;178733339 | chr2:179598068;179598067;179598066 |
| N2AB | 5001 | 15226;15227;15228 | chr2:178733341;178733340;178733339 | chr2:179598068;179598067;179598066 |
| N2A | 4074 | 12445;12446;12447 | chr2:178733341;178733340;178733339 | chr2:179598068;179598067;179598066 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1312777672  |
-1.315 | 0.999 | D | 0.8 | 0.632 | 0.802960216855 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs1312777672 |
-1.315 | 0.999 | D | 0.8 | 0.632 | 0.802960216855 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs1312777672 |
-1.315 | 0.999 | D | 0.8 | 0.632 | 0.802960216855 | gnomAD-4.0.0 | 3.84337E-06 | None | None | None | None | N | None | 3.38192E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.3402E-05 | 0 |
| L/I | rs1312777672 |
-0.145 | 0.992 | D | 0.677 | 0.536 | 0.77125546122 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.4433E-04 | None | 0 | None | 0 | 0 | 0 |
| L/I | rs1312777672 |
-0.145 | 0.992 | D | 0.677 | 0.536 | 0.77125546122 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | rs1312777672 |
-0.145 | 0.992 | D | 0.677 | 0.536 | 0.77125546122 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | None | None | 0.999 | D | 0.893 | 0.857 | 0.8876104219 | gnomAD-4.0.0 | 6.84218E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99463E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.932 | likely_pathogenic | 0.9367 | pathogenic | -1.914 | Destabilizing | 0.997 | D | 0.737 | prob.delet. | None | None | None | None | N |
| L/C | 0.8562 | likely_pathogenic | 0.8762 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| L/D | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| L/E | 0.9943 | likely_pathogenic | 0.9954 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| L/F | 0.5724 | likely_pathogenic | 0.5739 | pathogenic | -1.241 | Destabilizing | 0.999 | D | 0.8 | deleterious | D | 0.670930626 | None | None | N |
| L/G | 0.9837 | likely_pathogenic | 0.9858 | pathogenic | -2.435 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/H | 0.9835 | likely_pathogenic | 0.9859 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.828767428 | None | None | N |
| L/I | 0.1997 | likely_benign | 0.195 | benign | -0.338 | Destabilizing | 0.992 | D | 0.677 | prob.neutral | D | 0.70157451 | None | None | N |
| L/K | 0.9909 | likely_pathogenic | 0.9924 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| L/M | 0.2777 | likely_benign | 0.2713 | benign | -0.675 | Destabilizing | 0.967 | D | 0.453 | neutral | None | None | None | None | N |
| L/N | 0.9941 | likely_pathogenic | 0.995 | pathogenic | -2.264 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| L/P | 0.9972 | likely_pathogenic | 0.9974 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.795506073 | None | None | N |
| L/Q | 0.9732 | likely_pathogenic | 0.9772 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| L/R | 0.9794 | likely_pathogenic | 0.9844 | pathogenic | -1.954 | Destabilizing | 0.999 | D | 0.893 | deleterious | D | 0.828767428 | None | None | N |
| L/S | 0.9923 | likely_pathogenic | 0.993 | pathogenic | -2.581 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| L/T | 0.9744 | likely_pathogenic | 0.9761 | pathogenic | -2.128 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| L/V | 0.2889 | likely_benign | 0.2887 | benign | -0.857 | Destabilizing | 0.992 | D | 0.705 | prob.neutral | D | 0.65181069 | None | None | N |
| L/W | 0.9205 | likely_pathogenic | 0.9328 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| L/Y | 0.9312 | likely_pathogenic | 0.9429 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.836 | 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.