Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16115 | 48568;48569;48570 | chr2:178615758;178615757;178615756 | chr2:179480485;179480484;179480483 |
| N2AB | 14474 | 43645;43646;43647 | chr2:178615758;178615757;178615756 | chr2:179480485;179480484;179480483 |
| N2A | 13547 | 40864;40865;40866 | chr2:178615758;178615757;178615756 | chr2:179480485;179480484;179480483 |
| N2B | 7050 | 21373;21374;21375 | chr2:178615758;178615757;178615756 | chr2:179480485;179480484;179480483 |
| Novex-1 | 7175 | 21748;21749;21750 | chr2:178615758;178615757;178615756 | chr2:179480485;179480484;179480483 |
| Novex-2 | 7242 | 21949;21950;21951 | chr2:178615758;178615757;178615756 | chr2:179480485;179480484;179480483 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1361995359  |
0.22 | 0.997 | D | 0.795 | 0.45 | 0.591466401951 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/I | rs1361995359 |
0.22 | 0.997 | D | 0.795 | 0.45 | 0.591466401951 | gnomAD-4.0.0 | 4.10984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40149E-06 | 0 | 0 |
| T/R | None | None | 0.993 | N | 0.796 | 0.421 | 0.717697456393 | gnomAD-4.0.0 | 6.84974E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00249E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0937 | likely_benign | 0.108 | benign | -0.776 | Destabilizing | 0.898 | D | 0.473 | neutral | D | 0.52925121 | None | None | N |
| T/C | 0.3275 | likely_benign | 0.4073 | ambiguous | -0.45 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| T/D | 0.4203 | ambiguous | 0.4445 | ambiguous | -0.175 | Destabilizing | 0.995 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/E | 0.3369 | likely_benign | 0.3699 | ambiguous | -0.109 | Destabilizing | 0.995 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/F | 0.2642 | likely_benign | 0.322 | benign | -0.735 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| T/G | 0.3648 | ambiguous | 0.4274 | ambiguous | -1.09 | Destabilizing | 0.966 | D | 0.655 | neutral | None | None | None | None | N |
| T/H | 0.2312 | likely_benign | 0.2706 | benign | -1.274 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| T/I | 0.1201 | likely_benign | 0.1404 | benign | -0.015 | Destabilizing | 0.997 | D | 0.795 | deleterious | D | 0.550970172 | None | None | N |
| T/K | 0.2099 | likely_benign | 0.242 | benign | -0.604 | Destabilizing | 0.993 | D | 0.737 | prob.delet. | N | 0.474822225 | None | None | N |
| T/L | 0.0952 | likely_benign | 0.1118 | benign | -0.015 | Destabilizing | 0.983 | D | 0.623 | neutral | None | None | None | None | N |
| T/M | 0.0867 | likely_benign | 0.0983 | benign | 0.032 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/N | 0.1525 | likely_benign | 0.173 | benign | -0.762 | Destabilizing | 0.995 | D | 0.653 | neutral | None | None | None | None | N |
| T/P | 0.1856 | likely_benign | 0.2027 | benign | -0.235 | Destabilizing | 0.997 | D | 0.799 | deleterious | N | 0.489971831 | None | None | N |
| T/Q | 0.2272 | likely_benign | 0.2583 | benign | -0.728 | Destabilizing | 0.998 | D | 0.808 | deleterious | None | None | None | None | N |
| T/R | 0.1611 | likely_benign | 0.1862 | benign | -0.526 | Destabilizing | 0.993 | D | 0.796 | deleterious | N | 0.482367253 | None | None | N |
| T/S | 0.1278 | likely_benign | 0.1472 | benign | -1.035 | Destabilizing | 0.362 | N | 0.312 | neutral | N | 0.484298043 | None | None | N |
| T/V | 0.1018 | likely_benign | 0.1148 | benign | -0.235 | Destabilizing | 0.983 | D | 0.529 | neutral | None | None | None | None | N |
| T/W | 0.5687 | likely_pathogenic | 0.6236 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| T/Y | 0.2846 | likely_benign | 0.3366 | benign | -0.489 | Destabilizing | 0.999 | D | 0.838 | 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.