Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20560 | 61903;61904;61905 | chr2:178590047;178590046;178590045 | chr2:179454774;179454773;179454772 |
| N2AB | 18919 | 56980;56981;56982 | chr2:178590047;178590046;178590045 | chr2:179454774;179454773;179454772 |
| N2A | 17992 | 54199;54200;54201 | chr2:178590047;178590046;178590045 | chr2:179454774;179454773;179454772 |
| N2B | 11495 | 34708;34709;34710 | chr2:178590047;178590046;178590045 | chr2:179454774;179454773;179454772 |
| Novex-1 | 11620 | 35083;35084;35085 | chr2:178590047;178590046;178590045 | chr2:179454774;179454773;179454772 |
| Novex-2 | 11687 | 35284;35285;35286 | chr2:178590047;178590046;178590045 | chr2:179454774;179454773;179454772 |
| 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 | rs754293456  |
-0.201 | 0.011 | N | 0.323 | 0.153 | 0.214338557667 | gnomAD-2.1.1 | 5.25E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 4.25337E-04 | None | 0 | 0 | 0 |
| G/A | rs754293456 |
-0.201 | 0.011 | N | 0.323 | 0.153 | 0.214338557667 | gnomAD-4.0.0 | 2.12192E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.59562E-04 | 0 |
| G/D | None | -0.294 | 0.984 | N | 0.732 | 0.31 | 0.442977140156 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/D | None | -0.294 | 0.984 | N | 0.732 | 0.31 | 0.442977140156 | gnomAD-4.0.0 | 2.73796E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59889E-06 | 0 | 0 |
| G/V | rs754293456 |
0.019 | 0.811 | N | 0.739 | 0.267 | 0.492336895404 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.01E-05 | 7.84E-06 | 0 |
| G/V | rs754293456 |
0.019 | 0.811 | N | 0.739 | 0.267 | 0.492336895404 | gnomAD-4.0.0 | 6.84489E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.87378E-05 | 0 | 0 | 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 | 0.0984 | likely_benign | 0.096 | benign | -0.273 | Destabilizing | 0.011 | N | 0.323 | neutral | N | 0.340654392 | None | None | I |
| G/C | 0.2715 | likely_benign | 0.2621 | benign | -0.895 | Destabilizing | 0.026 | N | 0.582 | neutral | N | 0.391816718 | None | None | I |
| G/D | 0.6858 | likely_pathogenic | 0.6643 | pathogenic | -0.215 | Destabilizing | 0.984 | D | 0.732 | prob.delet. | N | 0.457174919 | None | None | I |
| G/E | 0.6673 | likely_pathogenic | 0.6517 | pathogenic | -0.348 | Destabilizing | 0.976 | D | 0.756 | deleterious | None | None | None | None | I |
| G/F | 0.7439 | likely_pathogenic | 0.7458 | pathogenic | -0.857 | Destabilizing | 0.988 | D | 0.803 | deleterious | None | None | None | None | I |
| G/H | 0.7516 | likely_pathogenic | 0.7373 | pathogenic | -0.547 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | I |
| G/I | 0.4088 | ambiguous | 0.4216 | ambiguous | -0.29 | Destabilizing | 0.976 | D | 0.786 | deleterious | None | None | None | None | I |
| G/K | 0.785 | likely_pathogenic | 0.7829 | pathogenic | -0.729 | Destabilizing | 0.976 | D | 0.75 | deleterious | None | None | None | None | I |
| G/L | 0.631 | likely_pathogenic | 0.6278 | pathogenic | -0.29 | Destabilizing | 0.919 | D | 0.733 | prob.delet. | None | None | None | None | I |
| G/M | 0.632 | likely_pathogenic | 0.6331 | pathogenic | -0.46 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | I |
| G/N | 0.6636 | likely_pathogenic | 0.657 | pathogenic | -0.429 | Destabilizing | 0.988 | D | 0.649 | neutral | None | None | None | None | I |
| G/P | 0.9951 | likely_pathogenic | 0.9957 | pathogenic | -0.248 | Destabilizing | 0.988 | D | 0.764 | deleterious | None | None | None | None | I |
| G/Q | 0.6991 | likely_pathogenic | 0.6802 | pathogenic | -0.64 | Destabilizing | 0.988 | D | 0.774 | deleterious | None | None | None | None | I |
| G/R | 0.7142 | likely_pathogenic | 0.7134 | pathogenic | -0.386 | Destabilizing | 0.984 | D | 0.77 | deleterious | N | 0.436973005 | None | None | I |
| G/S | 0.1751 | likely_benign | 0.1635 | benign | -0.652 | Destabilizing | 0.811 | D | 0.588 | neutral | N | 0.384773316 | None | None | I |
| G/T | 0.2515 | likely_benign | 0.2494 | benign | -0.695 | Destabilizing | 0.976 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/V | 0.2732 | likely_benign | 0.2757 | benign | -0.248 | Destabilizing | 0.811 | D | 0.739 | prob.delet. | N | 0.375135112 | None | None | I |
| G/W | 0.791 | likely_pathogenic | 0.7812 | pathogenic | -1.05 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | I |
| G/Y | 0.68 | likely_pathogenic | 0.6698 | pathogenic | -0.67 | Destabilizing | 0.996 | D | 0.793 | 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.