Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7892 | 23899;23900;23901 | chr2:178719818;178719817;178719816 | chr2:179584545;179584544;179584543 |
| N2AB | 7575 | 22948;22949;22950 | chr2:178719818;178719817;178719816 | chr2:179584545;179584544;179584543 |
| N2A | 6648 | 20167;20168;20169 | chr2:178719818;178719817;178719816 | chr2:179584545;179584544;179584543 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | None | N | 0.097 | 0.075 | 0.152612264143 | gnomAD-4.0.0 | 6.88564E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03674E-07 | 0 | 0 |
| I/R | rs201181445  |
0.202 | 0.171 | N | 0.388 | 0.097 | 0.418718287753 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 1.29887E-04 | 5.88E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/R | rs201181445 |
0.202 | 0.171 | N | 0.388 | 0.097 | 0.418718287753 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 1.31199E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/R | rs201181445 |
0.202 | 0.171 | N | 0.388 | 0.097 | 0.418718287753 | gnomAD-4.0.0 | 9.94737E-06 | None | None | None | None | N | None | 4.01531E-05 | 8.3949E-05 | None | 0 | 0 | None | 0 | 0 | 4.24999E-06 | 0 | 4.82393E-05 |
| I/T | rs201181445 |
-0.699 | None | N | 0.131 | 0.072 | None | gnomAD-2.1.1 | 9.42E-05 | None | None | None | None | N | None | 1.24399E-04 | 2.87E-05 | None | 0 | 0 | None | 0 | None | 7.62807E-04 | 2.39E-05 | 0 |
| I/T | rs201181445 |
-0.699 | None | N | 0.131 | 0.072 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 5.65078E-04 | 0 | 2.94E-05 | 0 | 0 |
| I/T | rs201181445 |
-0.699 | None | N | 0.131 | 0.072 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/T | rs201181445 |
-0.699 | None | N | 0.131 | 0.072 | None | gnomAD-4.0.0 | 7.45998E-05 | None | None | None | None | N | None | 8.01753E-05 | 1.67842E-05 | None | 0 | 0 | None | 6.25723E-04 | 0 | 6.12002E-05 | 0 | 1.60741E-05 |
| I/V | rs2078060561 |
None | None | N | 0.102 | 0.08 | 0.128392430309 | gnomAD-4.0.0 | 2.06569E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.53582E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1399 | likely_benign | 0.1156 | benign | -1.12 | Destabilizing | 0.016 | N | 0.268 | neutral | None | None | None | None | N |
| I/C | 0.6734 | likely_pathogenic | 0.5671 | pathogenic | -0.79 | Destabilizing | 0.356 | N | 0.274 | neutral | None | None | None | None | N |
| I/D | 0.5082 | ambiguous | 0.4012 | ambiguous | -0.633 | Destabilizing | 0.214 | N | 0.385 | neutral | None | None | None | None | N |
| I/E | 0.3444 | ambiguous | 0.2616 | benign | -0.677 | Destabilizing | 0.072 | N | 0.389 | neutral | None | None | None | None | N |
| I/F | 0.1653 | likely_benign | 0.1261 | benign | -0.79 | Destabilizing | 0.12 | N | 0.277 | neutral | None | None | None | None | N |
| I/G | 0.4627 | ambiguous | 0.3725 | ambiguous | -1.364 | Destabilizing | 0.072 | N | 0.367 | neutral | None | None | None | None | N |
| I/H | 0.4 | ambiguous | 0.2934 | benign | -0.501 | Destabilizing | 0.864 | D | 0.303 | neutral | None | None | None | None | N |
| I/K | 0.2448 | likely_benign | 0.1825 | benign | -0.839 | Destabilizing | 0.055 | N | 0.372 | neutral | N | 0.472733186 | None | None | N |
| I/L | 0.0937 | likely_benign | 0.081 | benign | -0.561 | Destabilizing | None | N | 0.097 | neutral | N | 0.454168246 | None | None | N |
| I/M | 0.084 | likely_benign | 0.0725 | benign | -0.53 | Destabilizing | 0.171 | N | 0.303 | neutral | N | 0.472986675 | None | None | N |
| I/N | 0.2552 | likely_benign | 0.1897 | benign | -0.678 | Destabilizing | 0.214 | N | 0.381 | neutral | None | None | None | None | N |
| I/P | 0.6797 | likely_pathogenic | 0.5536 | ambiguous | -0.715 | Destabilizing | 0.356 | N | 0.382 | neutral | None | None | None | None | N |
| I/Q | 0.2722 | likely_benign | 0.2043 | benign | -0.879 | Destabilizing | 0.356 | N | 0.358 | neutral | None | None | None | None | N |
| I/R | 0.1694 | likely_benign | 0.1282 | benign | -0.201 | Destabilizing | 0.171 | N | 0.388 | neutral | N | 0.480336127 | None | None | N |
| I/S | 0.17 | likely_benign | 0.1359 | benign | -1.185 | Destabilizing | 0.038 | N | 0.331 | neutral | None | None | None | None | N |
| I/T | 0.065 | likely_benign | 0.059 | benign | -1.119 | Destabilizing | None | N | 0.131 | neutral | N | 0.467060186 | None | None | N |
| I/V | 0.0666 | likely_benign | 0.068 | benign | -0.715 | Destabilizing | None | N | 0.102 | neutral | N | 0.414399137 | None | None | N |
| I/W | 0.6239 | likely_pathogenic | 0.4961 | ambiguous | -0.824 | Destabilizing | 0.864 | D | 0.322 | neutral | None | None | None | None | N |
| I/Y | 0.5121 | ambiguous | 0.3953 | ambiguous | -0.614 | Destabilizing | 0.356 | N | 0.335 | neutral | 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.