Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18466 | 55621;55622;55623 | chr2:178601694;178601693;178601692 | chr2:179466421;179466420;179466419 |
| N2AB | 16825 | 50698;50699;50700 | chr2:178601694;178601693;178601692 | chr2:179466421;179466420;179466419 |
| N2A | 15898 | 47917;47918;47919 | chr2:178601694;178601693;178601692 | chr2:179466421;179466420;179466419 |
| N2B | 9401 | 28426;28427;28428 | chr2:178601694;178601693;178601692 | chr2:179466421;179466420;179466419 |
| Novex-1 | 9526 | 28801;28802;28803 | chr2:178601694;178601693;178601692 | chr2:179466421;179466420;179466419 |
| Novex-2 | 9593 | 29002;29003;29004 | chr2:178601694;178601693;178601692 | chr2:179466421;179466420;179466419 |
| 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/R | rs772677752  |
-0.209 | 1.0 | D | 0.913 | 0.806 | 0.844311691656 | gnomAD-2.1.1 | 7.66E-05 | None | None | None | None | I | None | 0 | 0 | None | 2.98864E-04 | 0 | None | 0 | None | 0 | 1.34645E-04 | 1.43431E-04 |
| G/R | rs772677752 |
-0.209 | 1.0 | D | 0.913 | 0.806 | 0.844311691656 | gnomAD-3.1.2 | 7.24E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.6186E-04 | 0 | 0 |
| G/R | rs772677752 |
-0.209 | 1.0 | D | 0.913 | 0.806 | 0.844311691656 | gnomAD-4.0.0 | 5.28844E-05 | None | None | None | None | I | None | 0 | 0 | None | 2.38745E-04 | 0 | None | 4.70559E-05 | 0 | 5.94238E-05 | 0 | 8.04842E-05 |
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 | 0.6354 | likely_pathogenic | 0.6725 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.596889533 | None | None | I |
| G/C | 0.8341 | likely_pathogenic | 0.8431 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/D | 0.9434 | likely_pathogenic | 0.9536 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/E | 0.95 | likely_pathogenic | 0.9534 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.542057734 | None | None | I |
| G/F | 0.9687 | likely_pathogenic | 0.9741 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/H | 0.9545 | likely_pathogenic | 0.9564 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/I | 0.9679 | likely_pathogenic | 0.975 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/K | 0.9183 | likely_pathogenic | 0.9204 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| G/L | 0.9569 | likely_pathogenic | 0.9653 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/M | 0.9682 | likely_pathogenic | 0.9748 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/N | 0.9249 | likely_pathogenic | 0.9404 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/P | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/Q | 0.9114 | likely_pathogenic | 0.9142 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/R | 0.8428 | likely_pathogenic | 0.8388 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.597091338 | None | None | I |
| G/S | 0.5591 | ambiguous | 0.6065 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/T | 0.8625 | likely_pathogenic | 0.8993 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/V | 0.9336 | likely_pathogenic | 0.9468 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.59769675 | None | None | I |
| G/W | 0.9636 | likely_pathogenic | 0.962 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/Y | 0.9615 | likely_pathogenic | 0.9664 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.885 | 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.