Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25558 | 76897;76898;76899 | chr2:178569460;178569459;178569458 | chr2:179434187;179434186;179434185 |
| N2AB | 23917 | 71974;71975;71976 | chr2:178569460;178569459;178569458 | chr2:179434187;179434186;179434185 |
| N2A | 22990 | 69193;69194;69195 | chr2:178569460;178569459;178569458 | chr2:179434187;179434186;179434185 |
| N2B | 16493 | 49702;49703;49704 | chr2:178569460;178569459;178569458 | chr2:179434187;179434186;179434185 |
| Novex-1 | 16618 | 50077;50078;50079 | chr2:178569460;178569459;178569458 | chr2:179434187;179434186;179434185 |
| Novex-2 | 16685 | 50278;50279;50280 | chr2:178569460;178569459;178569458 | chr2:179434187;179434186;179434185 |
| 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/V | rs201095164  |
0.149 | 0.988 | N | 0.763 | 0.491 | None | gnomAD-2.1.1 | 1.93332E-04 | None | None | None | None | N | None | 0 | 5.10754E-04 | None | 2.90698E-03 | 0 | None | 3.27E-05 | None | 0 | 1.57E-05 | 4.24088E-04 |
| D/V | rs201095164 |
0.149 | 0.988 | N | 0.763 | 0.491 | None | gnomAD-3.1.2 | 1.05201E-04 | None | None | None | None | N | None | 0 | 2.62192E-04 | 0 | 2.59366E-03 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| D/V | rs201095164 |
0.149 | 0.988 | N | 0.763 | 0.491 | None | gnomAD-4.0.0 | 9.11376E-05 | None | None | None | None | N | None | 1.33536E-05 | 4.67165E-04 | None | 2.80633E-03 | 0 | None | 0 | 0 | 2.11972E-05 | 1.09864E-05 | 1.44166E-04 |
| D/Y | rs750336110 |
0.129 | 0.999 | N | 0.756 | 0.456 | 0.667936516386 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| D/Y | rs750336110 |
0.129 | 0.999 | N | 0.756 | 0.456 | 0.667936516386 | gnomAD-4.0.0 | 5.47669E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87406E-05 | 0 | 6.2989E-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 | 0.3914 | ambiguous | 0.3862 | ambiguous | -0.485 | Destabilizing | 0.919 | D | 0.604 | neutral | N | 0.491114134 | None | None | N |
| D/C | 0.8601 | likely_pathogenic | 0.8682 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/E | 0.1864 | likely_benign | 0.1876 | benign | -0.339 | Destabilizing | 0.958 | D | 0.391 | neutral | N | 0.380426289 | None | None | N |
| D/F | 0.8572 | likely_pathogenic | 0.8635 | pathogenic | -0.116 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| D/G | 0.4337 | ambiguous | 0.4433 | ambiguous | -0.756 | Destabilizing | 0.919 | D | 0.623 | neutral | N | 0.51882081 | None | None | N |
| D/H | 0.5048 | ambiguous | 0.5055 | ambiguous | -0.088 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | N | 0.49080749 | None | None | N |
| D/I | 0.662 | likely_pathogenic | 0.6693 | pathogenic | 0.206 | Stabilizing | 0.995 | D | 0.774 | deleterious | None | None | None | None | N |
| D/K | 0.7045 | likely_pathogenic | 0.6971 | pathogenic | 0.127 | Stabilizing | 0.991 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/L | 0.6803 | likely_pathogenic | 0.6855 | pathogenic | 0.206 | Stabilizing | 0.991 | D | 0.765 | deleterious | None | None | None | None | N |
| D/M | 0.8116 | likely_pathogenic | 0.8194 | pathogenic | 0.414 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/N | 0.1707 | likely_benign | 0.1708 | benign | -0.387 | Destabilizing | 0.958 | D | 0.625 | neutral | N | 0.498501466 | None | None | N |
| D/P | 0.9769 | likely_pathogenic | 0.9799 | pathogenic | -0.001 | Destabilizing | 0.995 | D | 0.741 | deleterious | None | None | None | None | N |
| D/Q | 0.5594 | ambiguous | 0.5602 | ambiguous | -0.293 | Destabilizing | 0.991 | D | 0.676 | prob.neutral | None | None | None | None | N |
| D/R | 0.7247 | likely_pathogenic | 0.7249 | pathogenic | 0.347 | Stabilizing | 0.991 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/S | 0.2353 | likely_benign | 0.2392 | benign | -0.52 | Destabilizing | 0.484 | N | 0.341 | neutral | None | None | None | None | N |
| D/T | 0.4236 | ambiguous | 0.4214 | ambiguous | -0.294 | Destabilizing | 0.982 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/V | 0.4341 | ambiguous | 0.4352 | ambiguous | -0.001 | Destabilizing | 0.988 | D | 0.763 | deleterious | N | 0.47987842 | None | None | N |
| D/W | 0.9646 | likely_pathogenic | 0.9694 | pathogenic | 0.12 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/Y | 0.5008 | ambiguous | 0.5052 | ambiguous | 0.145 | Stabilizing | 0.999 | D | 0.756 | deleterious | N | 0.486301894 | 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.