Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18985 | 57178;57179;57180 | chr2:178598757;178598756;178598755 | chr2:179463484;179463483;179463482 |
| N2AB | 17344 | 52255;52256;52257 | chr2:178598757;178598756;178598755 | chr2:179463484;179463483;179463482 |
| N2A | 16417 | 49474;49475;49476 | chr2:178598757;178598756;178598755 | chr2:179463484;179463483;179463482 |
| N2B | 9920 | 29983;29984;29985 | chr2:178598757;178598756;178598755 | chr2:179463484;179463483;179463482 |
| Novex-1 | 10045 | 30358;30359;30360 | chr2:178598757;178598756;178598755 | chr2:179463484;179463483;179463482 |
| Novex-2 | 10112 | 30559;30560;30561 | chr2:178598757;178598756;178598755 | chr2:179463484;179463483;179463482 |
| 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/N | rs1244503464  |
0.42 | 1.0 | N | 0.775 | 0.263 | 0.30212335484 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1244503464 |
0.42 | 1.0 | N | 0.775 | 0.263 | 0.30212335484 | gnomAD-4.0.0 | 2.05416E-06 | None | None | None | None | N | None | 2.99706E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79961E-06 | 0 | 0 |
| D/V | None | None | 1.0 | N | 0.801 | 0.494 | 0.527958119908 | gnomAD-4.0.0 | 1.59483E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86244E-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 | 0.8654 | likely_pathogenic | 0.8351 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.505970864 | None | None | N |
| D/C | 0.9785 | likely_pathogenic | 0.9738 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/E | 0.7043 | likely_pathogenic | 0.6618 | pathogenic | -0.408 | Destabilizing | 0.999 | D | 0.517 | neutral | N | 0.467972624 | None | None | N |
| D/F | 0.9739 | likely_pathogenic | 0.9714 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/G | 0.9346 | likely_pathogenic | 0.9113 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.49958361 | None | None | N |
| D/H | 0.9305 | likely_pathogenic | 0.9163 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.479077786 | None | None | N |
| D/I | 0.9576 | likely_pathogenic | 0.9468 | pathogenic | 0.157 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/K | 0.9711 | likely_pathogenic | 0.9568 | pathogenic | 0.196 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/L | 0.9138 | likely_pathogenic | 0.8996 | pathogenic | 0.157 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/M | 0.979 | likely_pathogenic | 0.9743 | pathogenic | 0.268 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/N | 0.6254 | likely_pathogenic | 0.5892 | pathogenic | -0.052 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.485078304 | None | None | N |
| D/P | 0.9696 | likely_pathogenic | 0.9431 | pathogenic | 0.027 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/Q | 0.9562 | likely_pathogenic | 0.9382 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/R | 0.9761 | likely_pathogenic | 0.963 | pathogenic | 0.354 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/S | 0.766 | likely_pathogenic | 0.7364 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/T | 0.9356 | likely_pathogenic | 0.9151 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/V | 0.906 | likely_pathogenic | 0.881 | pathogenic | 0.027 | Stabilizing | 1.0 | D | 0.801 | deleterious | N | 0.482218111 | None | None | N |
| D/W | 0.9933 | likely_pathogenic | 0.992 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/Y | 0.8442 | likely_pathogenic | 0.8138 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.500322366 | 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.