Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17598 | 53017;53018;53019 | chr2:178607995;178607994;178607993 | chr2:179472722;179472721;179472720 |
| N2AB | 15957 | 48094;48095;48096 | chr2:178607995;178607994;178607993 | chr2:179472722;179472721;179472720 |
| N2A | 15030 | 45313;45314;45315 | chr2:178607995;178607994;178607993 | chr2:179472722;179472721;179472720 |
| N2B | 8533 | 25822;25823;25824 | chr2:178607995;178607994;178607993 | chr2:179472722;179472721;179472720 |
| Novex-1 | 8658 | 26197;26198;26199 | chr2:178607995;178607994;178607993 | chr2:179472722;179472721;179472720 |
| Novex-2 | 8725 | 26398;26399;26400 | chr2:178607995;178607994;178607993 | chr2:179472722;179472721;179472720 |
| 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/D | rs1259638481  |
-0.203 | 1.0 | N | 0.711 | 0.375 | 0.371903410333 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/D | rs1259638481 |
-0.203 | 1.0 | N | 0.711 | 0.375 | 0.371903410333 | gnomAD-4.0.0 | 2.05361E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47866E-05 | 0 |
| G/R | rs771936047 |
0.049 | 1.0 | N | 0.804 | 0.471 | 0.560416893347 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 1.65948E-04 |
| G/R | rs771936047 |
0.049 | 1.0 | N | 0.804 | 0.471 | 0.560416893347 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs771936047 |
0.049 | 1.0 | N | 0.804 | 0.471 | 0.560416893347 | gnomAD-4.0.0 | 5.58038E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 8.23181E-04 | 2.54382E-06 | 0 | 1.60231E-05 |
| G/S | None | None | 1.0 | N | 0.719 | 0.41 | 0.326074293725 | gnomAD-4.0.0 | 6.84535E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99763E-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 | 0.5106 | ambiguous | 0.4961 | ambiguous | -0.169 | Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.47059877 | None | None | I |
| G/C | 0.5684 | likely_pathogenic | 0.5851 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.507594202 | None | None | I |
| G/D | 0.6968 | likely_pathogenic | 0.6213 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.50203434 | None | None | I |
| G/E | 0.7557 | likely_pathogenic | 0.703 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/F | 0.9118 | likely_pathogenic | 0.8966 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/H | 0.7712 | likely_pathogenic | 0.7271 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/I | 0.8762 | likely_pathogenic | 0.883 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.7318 | likely_pathogenic | 0.6808 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/L | 0.8743 | likely_pathogenic | 0.8493 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/M | 0.8858 | likely_pathogenic | 0.8673 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.6899 | likely_pathogenic | 0.5844 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/P | 0.9829 | likely_pathogenic | 0.9836 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Q | 0.6954 | likely_pathogenic | 0.6468 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/R | 0.5719 | likely_pathogenic | 0.5336 | ambiguous | -0.133 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.483703049 | None | None | I |
| G/S | 0.3403 | ambiguous | 0.3083 | benign | -0.418 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.47906824 | None | None | I |
| G/T | 0.6735 | likely_pathogenic | 0.6744 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/V | 0.8142 | likely_pathogenic | 0.8255 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.518443529 | None | None | I |
| G/W | 0.8333 | likely_pathogenic | 0.8255 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/Y | 0.8401 | likely_pathogenic | 0.8079 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.783 | 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.