Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22137 | 66634;66635;66636 | chr2:178581960;178581959;178581958 | chr2:179446687;179446686;179446685 |
| N2AB | 20496 | 61711;61712;61713 | chr2:178581960;178581959;178581958 | chr2:179446687;179446686;179446685 |
| N2A | 19569 | 58930;58931;58932 | chr2:178581960;178581959;178581958 | chr2:179446687;179446686;179446685 |
| N2B | 13072 | 39439;39440;39441 | chr2:178581960;178581959;178581958 | chr2:179446687;179446686;179446685 |
| Novex-1 | 13197 | 39814;39815;39816 | chr2:178581960;178581959;178581958 | chr2:179446687;179446686;179446685 |
| Novex-2 | 13264 | 40015;40016;40017 | chr2:178581960;178581959;178581958 | chr2:179446687;179446686;179446685 |
| 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 | D | 0.737 | 0.701 | 0.424789488895 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/E | None | None | 1.0 | D | 0.894 | 0.749 | 0.5866629029 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| G/V | rs1405845871  |
None | 1.0 | D | 0.875 | 0.749 | 0.635582896387 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.8548 | likely_pathogenic | 0.8554 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.538925457 | None | None | N |
| G/C | 0.9293 | likely_pathogenic | 0.924 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/D | 0.9778 | likely_pathogenic | 0.9766 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/E | 0.9799 | likely_pathogenic | 0.9793 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.562309631 | None | None | N |
| G/F | 0.9826 | likely_pathogenic | 0.9814 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/H | 0.99 | likely_pathogenic | 0.9888 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/I | 0.9707 | likely_pathogenic | 0.9701 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/K | 0.9828 | likely_pathogenic | 0.9799 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/L | 0.9685 | likely_pathogenic | 0.9713 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/M | 0.9852 | likely_pathogenic | 0.9859 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/N | 0.9743 | likely_pathogenic | 0.973 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/P | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/Q | 0.9771 | likely_pathogenic | 0.9758 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/R | 0.9703 | likely_pathogenic | 0.965 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.550953325 | None | None | N |
| G/S | 0.7993 | likely_pathogenic | 0.7836 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/T | 0.9471 | likely_pathogenic | 0.9429 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/V | 0.9525 | likely_pathogenic | 0.9522 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.529708745 | None | None | N |
| G/W | 0.9861 | likely_pathogenic | 0.9855 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Y | 0.9831 | likely_pathogenic | 0.9812 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.885 | 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.