Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5985 | 18178;18179;18180 | chr2:178730580;178730579;178730578 | chr2:179595307;179595306;179595305 |
| N2AB | 5668 | 17227;17228;17229 | chr2:178730580;178730579;178730578 | chr2:179595307;179595306;179595305 |
| N2A | 4741 | 14446;14447;14448 | chr2:178730580;178730579;178730578 | chr2:179595307;179595306;179595305 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1452556096  |
-0.407 | 0.996 | D | 0.716 | 0.771 | 0.699529956698 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1452556096 |
-0.407 | 0.996 | D | 0.716 | 0.771 | 0.699529956698 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 2.23664E-05 | None | 0 | 0 | None | 0 | 0 | 8.99559E-07 | 0 | 0 |
| D/N | rs746248401 |
-0.25 | 1.0 | D | 0.811 | 0.646 | 0.698733648705 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| D/V | rs1452556096 |
1.338 | 0.999 | D | 0.875 | 0.772 | 0.918250576733 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| D/V | rs1452556096 |
1.338 | 0.999 | D | 0.875 | 0.772 | 0.918250576733 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79912E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9606 | likely_pathogenic | 0.9514 | pathogenic | 0.551 | Stabilizing | 0.767 | D | 0.589 | neutral | D | 0.667553284 | None | None | N |
| D/C | 0.9907 | likely_pathogenic | 0.9876 | pathogenic | 0.446 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/E | 0.892 | likely_pathogenic | 0.8891 | pathogenic | -0.619 | Destabilizing | 0.998 | D | 0.625 | neutral | D | 0.634071572 | None | None | N |
| D/F | 0.9947 | likely_pathogenic | 0.9933 | pathogenic | 1.206 | Stabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| D/G | 0.9736 | likely_pathogenic | 0.9698 | pathogenic | 0.07 | Stabilizing | 0.996 | D | 0.716 | prob.delet. | D | 0.667755089 | None | None | N |
| D/H | 0.9525 | likely_pathogenic | 0.923 | pathogenic | 0.842 | Stabilizing | 1.0 | D | 0.843 | deleterious | D | 0.599700485 | None | None | N |
| D/I | 0.9926 | likely_pathogenic | 0.9913 | pathogenic | 1.845 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| D/K | 0.9919 | likely_pathogenic | 0.9911 | pathogenic | 0.489 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/L | 0.9909 | likely_pathogenic | 0.9898 | pathogenic | 1.845 | Stabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
| D/M | 0.9951 | likely_pathogenic | 0.994 | pathogenic | 2.206 | Highly Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| D/N | 0.7925 | likely_pathogenic | 0.7425 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.610219334 | None | None | N |
| D/P | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | 1.444 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/Q | 0.9815 | likely_pathogenic | 0.9774 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/R | 0.9926 | likely_pathogenic | 0.9921 | pathogenic | 0.421 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/S | 0.9121 | likely_pathogenic | 0.8867 | pathogenic | -0.702 | Destabilizing | 0.994 | D | 0.656 | neutral | None | None | None | None | N |
| D/T | 0.9836 | likely_pathogenic | 0.9787 | pathogenic | -0.245 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| D/V | 0.9774 | likely_pathogenic | 0.9738 | pathogenic | 1.444 | Stabilizing | 0.999 | D | 0.875 | deleterious | D | 0.668158697 | None | None | N |
| D/W | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | 1.236 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/Y | 0.9669 | likely_pathogenic | 0.9586 | pathogenic | 1.501 | Stabilizing | 1.0 | D | 0.881 | deleterious | D | 0.651937532 | 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.