Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29188 | 87787;87788;87789 | chr2:178557792;178557791;178557790 | chr2:179422519;179422518;179422517 |
| N2AB | 27547 | 82864;82865;82866 | chr2:178557792;178557791;178557790 | chr2:179422519;179422518;179422517 |
| N2A | 26620 | 80083;80084;80085 | chr2:178557792;178557791;178557790 | chr2:179422519;179422518;179422517 |
| N2B | 20123 | 60592;60593;60594 | chr2:178557792;178557791;178557790 | chr2:179422519;179422518;179422517 |
| Novex-1 | 20248 | 60967;60968;60969 | chr2:178557792;178557791;178557790 | chr2:179422519;179422518;179422517 |
| Novex-2 | 20315 | 61168;61169;61170 | chr2:178557792;178557791;178557790 | chr2:179422519;179422518;179422517 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/E | rs772706810  |
-0.959 | 0.996 | N | 0.799 | 0.576 | 0.830648026789 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| V/E | rs772706810 |
-0.959 | 0.996 | N | 0.799 | 0.576 | 0.830648026789 | gnomAD-4.0.0 | 4.10498E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39658E-06 | 0 | 0 |
| V/G | None | None | 0.989 | D | 0.812 | 0.505 | 0.894228705942 | gnomAD-4.0.0 | 1.36833E-06 | None | None | None | None | N | None | 5.97372E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | None | None | 0.476 | N | 0.41 | 0.188 | 0.415055319159 | gnomAD-4.0.0 | 6.84162E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65645E-05 |
| V/M | None | None | 0.978 | N | 0.725 | 0.322 | 0.512942373286 | gnomAD-4.0.0 | 2.05249E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69828E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4282 | ambiguous | 0.5079 | ambiguous | -1.253 | Destabilizing | 0.928 | D | 0.493 | neutral | N | 0.467343087 | None | None | N |
| V/C | 0.8545 | likely_pathogenic | 0.8845 | pathogenic | -1.055 | Destabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | N |
| V/D | 0.9434 | likely_pathogenic | 0.9628 | pathogenic | -0.844 | Destabilizing | 0.997 | D | 0.834 | deleterious | None | None | None | None | N |
| V/E | 0.8829 | likely_pathogenic | 0.91 | pathogenic | -0.847 | Destabilizing | 0.996 | D | 0.799 | deleterious | N | 0.507817558 | None | None | N |
| V/F | 0.5035 | ambiguous | 0.5651 | pathogenic | -0.948 | Destabilizing | 0.983 | D | 0.829 | deleterious | None | None | None | None | N |
| V/G | 0.6649 | likely_pathogenic | 0.7405 | pathogenic | -1.556 | Destabilizing | 0.989 | D | 0.812 | deleterious | D | 0.523163562 | None | None | N |
| V/H | 0.9619 | likely_pathogenic | 0.9707 | pathogenic | -0.973 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| V/I | 0.0877 | likely_benign | 0.0918 | benign | -0.536 | Destabilizing | 0.05 | N | 0.305 | neutral | None | None | None | None | N |
| V/K | 0.9456 | likely_pathogenic | 0.9605 | pathogenic | -1.087 | Destabilizing | 0.992 | D | 0.802 | deleterious | None | None | None | None | N |
| V/L | 0.4322 | ambiguous | 0.5041 | ambiguous | -0.536 | Destabilizing | 0.476 | N | 0.41 | neutral | N | 0.5180948 | None | None | N |
| V/M | 0.3492 | ambiguous | 0.4 | ambiguous | -0.52 | Destabilizing | 0.978 | D | 0.725 | prob.delet. | N | 0.503666955 | None | None | N |
| V/N | 0.8383 | likely_pathogenic | 0.8864 | pathogenic | -0.967 | Destabilizing | 0.997 | D | 0.841 | deleterious | None | None | None | None | N |
| V/P | 0.9684 | likely_pathogenic | 0.9791 | pathogenic | -0.738 | Destabilizing | 0.997 | D | 0.827 | deleterious | None | None | None | None | N |
| V/Q | 0.8982 | likely_pathogenic | 0.9244 | pathogenic | -1.101 | Destabilizing | 0.997 | D | 0.831 | deleterious | None | None | None | None | N |
| V/R | 0.9382 | likely_pathogenic | 0.9558 | pathogenic | -0.576 | Destabilizing | 0.997 | D | 0.837 | deleterious | None | None | None | None | N |
| V/S | 0.6979 | likely_pathogenic | 0.7614 | pathogenic | -1.514 | Destabilizing | 0.992 | D | 0.797 | deleterious | None | None | None | None | N |
| V/T | 0.5412 | ambiguous | 0.5934 | pathogenic | -1.394 | Destabilizing | 0.944 | D | 0.61 | neutral | None | None | None | None | N |
| V/W | 0.9776 | likely_pathogenic | 0.9822 | pathogenic | -1.1 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| V/Y | 0.882 | likely_pathogenic | 0.9099 | pathogenic | -0.801 | Destabilizing | 0.992 | D | 0.834 | 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.