Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27897 | 83914;83915;83916 | chr2:178562443;178562442;178562441 | chr2:179427170;179427169;179427168 |
| N2AB | 26256 | 78991;78992;78993 | chr2:178562443;178562442;178562441 | chr2:179427170;179427169;179427168 |
| N2A | 25329 | 76210;76211;76212 | chr2:178562443;178562442;178562441 | chr2:179427170;179427169;179427168 |
| N2B | 18832 | 56719;56720;56721 | chr2:178562443;178562442;178562441 | chr2:179427170;179427169;179427168 |
| Novex-1 | 18957 | 57094;57095;57096 | chr2:178562443;178562442;178562441 | chr2:179427170;179427169;179427168 |
| Novex-2 | 19024 | 57295;57296;57297 | chr2:178562443;178562442;178562441 | chr2:179427170;179427169;179427168 |
| 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 | rs764302785  |
-0.366 | 0.775 | N | 0.564 | 0.318 | 0.231231049324 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/A | rs764302785 |
-0.366 | 0.775 | N | 0.564 | 0.318 | 0.231231049324 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs764302785 |
-0.366 | 0.775 | N | 0.564 | 0.318 | 0.231231049324 | gnomAD-4.0.0 | 6.19864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47718E-06 | 0 | 0 |
| G/S | None | None | 0.182 | N | 0.207 | 0.187 | 0.181679512989 | gnomAD-4.0.0 | 6.84415E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99594E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.138 | likely_benign | 0.1563 | benign | -0.642 | Destabilizing | 0.775 | D | 0.564 | neutral | N | 0.478199775 | None | None | N |
| G/C | 0.2049 | likely_benign | 0.2384 | benign | -0.802 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.500547219 | None | None | N |
| G/D | 0.479 | ambiguous | 0.5469 | ambiguous | -1.441 | Destabilizing | 0.947 | D | 0.71 | prob.delet. | N | 0.496722104 | None | None | N |
| G/E | 0.4765 | ambiguous | 0.5666 | pathogenic | -1.42 | Destabilizing | 0.992 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/F | 0.686 | likely_pathogenic | 0.7239 | pathogenic | -0.799 | Destabilizing | 0.995 | D | 0.823 | deleterious | None | None | None | None | N |
| G/H | 0.4907 | ambiguous | 0.5354 | ambiguous | -1.532 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| G/I | 0.5923 | likely_pathogenic | 0.6748 | pathogenic | -0.017 | Destabilizing | 0.998 | D | 0.823 | deleterious | None | None | None | None | N |
| G/K | 0.7435 | likely_pathogenic | 0.819 | pathogenic | -1.149 | Destabilizing | 0.992 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/L | 0.5832 | likely_pathogenic | 0.6378 | pathogenic | -0.017 | Destabilizing | 0.995 | D | 0.791 | deleterious | None | None | None | None | N |
| G/M | 0.5643 | likely_pathogenic | 0.631 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/N | 0.3648 | ambiguous | 0.3708 | ambiguous | -0.97 | Destabilizing | 0.628 | D | 0.219 | neutral | None | None | None | None | N |
| G/P | 0.9965 | likely_pathogenic | 0.9978 | pathogenic | -0.182 | Destabilizing | 0.997 | D | 0.769 | deleterious | None | None | None | None | N |
| G/Q | 0.4801 | ambiguous | 0.5561 | ambiguous | -1.031 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| G/R | 0.5753 | likely_pathogenic | 0.6823 | pathogenic | -1.029 | Destabilizing | 0.997 | D | 0.739 | prob.delet. | N | 0.494302567 | None | None | N |
| G/S | 0.0921 | likely_benign | 0.0964 | benign | -1.245 | Destabilizing | 0.182 | N | 0.207 | neutral | N | 0.508883458 | None | None | N |
| G/T | 0.2542 | likely_benign | 0.2992 | benign | -1.139 | Destabilizing | 0.984 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/V | 0.4517 | ambiguous | 0.5354 | ambiguous | -0.182 | Destabilizing | 0.997 | D | 0.784 | deleterious | D | 0.52232155 | None | None | N |
| G/W | 0.5963 | likely_pathogenic | 0.6623 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5066 | ambiguous | 0.5613 | ambiguous | -0.852 | Destabilizing | 0.477 | N | 0.648 | neutral | 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.