Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31039 | 93340;93341;93342 | chr2:178548511;178548510;178548509 | chr2:179413238;179413237;179413236 |
| N2AB | 29398 | 88417;88418;88419 | chr2:178548511;178548510;178548509 | chr2:179413238;179413237;179413236 |
| N2A | 28471 | 85636;85637;85638 | chr2:178548511;178548510;178548509 | chr2:179413238;179413237;179413236 |
| N2B | 21974 | 66145;66146;66147 | chr2:178548511;178548510;178548509 | chr2:179413238;179413237;179413236 |
| Novex-1 | 22099 | 66520;66521;66522 | chr2:178548511;178548510;178548509 | chr2:179413238;179413237;179413236 |
| Novex-2 | 22166 | 66721;66722;66723 | chr2:178548511;178548510;178548509 | chr2:179413238;179413237;179413236 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1188711854  |
None | 0.996 | D | 0.545 | 0.348 | 0.592600369099 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs1188711854 |
None | 0.996 | D | 0.545 | 0.348 | 0.592600369099 | gnomAD-4.0.0 | 1.97187E-05 | None | None | None | None | I | None | 7.23833E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs1442882348 |
-1.331 | 0.957 | N | 0.349 | 0.123 | 0.478605750892 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| A/S | rs1442882348 |
-1.331 | 0.957 | N | 0.349 | 0.123 | 0.478605750892 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | rs1442882348 |
-1.331 | 0.957 | N | 0.349 | 0.123 | 0.478605750892 | gnomAD-4.0.0 | 6.57229E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| A/T | None | None | 0.992 | N | 0.623 | 0.274 | 0.556972862284 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | None | None | 0.998 | N | 0.651 | 0.325 | 0.604342690544 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.606 | likely_pathogenic | 0.6141 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| A/D | 0.6952 | likely_pathogenic | 0.6639 | pathogenic | -0.969 | Destabilizing | 0.999 | D | 0.841 | deleterious | N | 0.518252302 | None | None | I |
| A/E | 0.6168 | likely_pathogenic | 0.5775 | pathogenic | -0.999 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | I |
| A/F | 0.491 | ambiguous | 0.4974 | ambiguous | -0.84 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| A/G | 0.2114 | likely_benign | 0.1963 | benign | -0.924 | Destabilizing | 0.996 | D | 0.545 | neutral | D | 0.523023404 | None | None | I |
| A/H | 0.6759 | likely_pathogenic | 0.678 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| A/I | 0.2847 | likely_benign | 0.2696 | benign | -0.242 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| A/K | 0.7884 | likely_pathogenic | 0.764 | pathogenic | -1.103 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | I |
| A/L | 0.2264 | likely_benign | 0.221 | benign | -0.242 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | I |
| A/M | 0.2574 | likely_benign | 0.252 | benign | -0.419 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| A/N | 0.3986 | ambiguous | 0.3804 | ambiguous | -0.849 | Destabilizing | 0.999 | D | 0.858 | deleterious | None | None | None | None | I |
| A/P | 0.1879 | likely_benign | 0.1646 | benign | -0.354 | Destabilizing | 0.999 | D | 0.869 | deleterious | N | 0.359380934 | None | None | I |
| A/Q | 0.5258 | ambiguous | 0.5121 | ambiguous | -0.976 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| A/R | 0.761 | likely_pathogenic | 0.7386 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| A/S | 0.1175 | likely_benign | 0.1137 | benign | -1.151 | Destabilizing | 0.957 | D | 0.349 | neutral | N | 0.488564113 | None | None | I |
| A/T | 0.1216 | likely_benign | 0.1134 | benign | -1.075 | Destabilizing | 0.992 | D | 0.623 | neutral | N | 0.505168362 | None | None | I |
| A/V | 0.1479 | likely_benign | 0.1397 | benign | -0.354 | Destabilizing | 0.998 | D | 0.651 | neutral | N | 0.491604419 | None | None | I |
| A/W | 0.9017 | likely_pathogenic | 0.9054 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| A/Y | 0.6732 | likely_pathogenic | 0.666 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.877 | 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.