Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29144 | 87655;87656;87657 | chr2:178557924;178557923;178557922 | chr2:179422651;179422650;179422649 |
| N2AB | 27503 | 82732;82733;82734 | chr2:178557924;178557923;178557922 | chr2:179422651;179422650;179422649 |
| N2A | 26576 | 79951;79952;79953 | chr2:178557924;178557923;178557922 | chr2:179422651;179422650;179422649 |
| N2B | 20079 | 60460;60461;60462 | chr2:178557924;178557923;178557922 | chr2:179422651;179422650;179422649 |
| Novex-1 | 20204 | 60835;60836;60837 | chr2:178557924;178557923;178557922 | chr2:179422651;179422650;179422649 |
| Novex-2 | 20271 | 61036;61037;61038 | chr2:178557924;178557923;178557922 | chr2:179422651;179422650;179422649 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1208554527  |
-1.237 | 1.0 | N | 0.759 | 0.478 | 0.434497104326 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs1208554527 |
-1.237 | 1.0 | N | 0.759 | 0.478 | 0.434497104326 | gnomAD-4.0.0 | 2.05346E-06 | None | None | None | None | N | None | 2.98686E-05 | 0 | None | 0 | 5.03804E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1417177709 |
None | 1.0 | N | 0.876 | 0.529 | 0.513503867364 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs1417177709 |
None | 1.0 | N | 0.876 | 0.529 | 0.513503867364 | gnomAD-4.0.0 | 6.81886E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47561E-06 | 0 | 1.60123E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2811 | likely_benign | 0.298 | benign | -0.371 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.513110703 | None | None | N |
| P/C | 0.7472 | likely_pathogenic | 0.7685 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/D | 0.6365 | likely_pathogenic | 0.6711 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/E | 0.5011 | ambiguous | 0.5274 | ambiguous | -0.407 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/F | 0.8429 | likely_pathogenic | 0.8591 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/G | 0.658 | likely_pathogenic | 0.6732 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/H | 0.5065 | ambiguous | 0.5271 | ambiguous | -0.02 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.540876197 | None | None | N |
| P/I | 0.6897 | likely_pathogenic | 0.7241 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/K | 0.583 | likely_pathogenic | 0.5999 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/L | 0.3696 | ambiguous | 0.3823 | ambiguous | -0.28 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.501684583 | None | None | N |
| P/M | 0.6247 | likely_pathogenic | 0.6546 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/N | 0.5836 | likely_pathogenic | 0.6091 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/Q | 0.4395 | ambiguous | 0.4592 | ambiguous | -0.464 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/R | 0.4745 | ambiguous | 0.495 | ambiguous | 0.045 | Stabilizing | 1.0 | D | 0.876 | deleterious | N | 0.513871172 | None | None | N |
| P/S | 0.4108 | ambiguous | 0.4292 | ambiguous | -0.571 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.508021822 | None | None | N |
| P/T | 0.3272 | likely_benign | 0.3411 | ambiguous | -0.59 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.502096793 | None | None | N |
| P/V | 0.5315 | ambiguous | 0.5759 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/W | 0.9324 | likely_pathogenic | 0.94 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/Y | 0.811 | likely_pathogenic | 0.8282 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.887 | 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.