Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15067 | 45424;45425;45426 | chr2:178621625;178621624;178621623 | chr2:179486352;179486351;179486350 |
| N2AB | 13426 | 40501;40502;40503 | chr2:178621625;178621624;178621623 | chr2:179486352;179486351;179486350 |
| N2A | 12499 | 37720;37721;37722 | chr2:178621625;178621624;178621623 | chr2:179486352;179486351;179486350 |
| N2B | 6002 | 18229;18230;18231 | chr2:178621625;178621624;178621623 | chr2:179486352;179486351;179486350 |
| Novex-1 | 6127 | 18604;18605;18606 | chr2:178621625;178621624;178621623 | chr2:179486352;179486351;179486350 |
| Novex-2 | 6194 | 18805;18806;18807 | chr2:178621625;178621624;178621623 | chr2:179486352;179486351;179486350 |
| 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/E | rs745901229  |
0.005 | 0.767 | N | 0.321 | 0.435 | 0.327952845175 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| D/E | rs745901229 |
0.005 | 0.767 | N | 0.321 | 0.435 | 0.327952845175 | gnomAD-4.0.0 | 1.16392E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52984E-05 | 0 | 0 |
| D/N | rs370904881 |
0.377 | 0.999 | D | 0.703 | 0.447 | None | gnomAD-2.1.1 | 5.74E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.25988E-04 | 0 |
| D/N | rs370904881 |
0.377 | 0.999 | D | 0.703 | 0.447 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.37E-05 | 0 | 0 |
| D/N | rs370904881 |
0.377 | 0.999 | D | 0.703 | 0.447 | None | gnomAD-4.0.0 | 9.36528E-05 | None | None | None | None | N | None | 1.33729E-05 | 0 | None | 3.38364E-05 | 0 | None | 0 | 1.64636E-04 | 1.17886E-04 | 0 | 1.44263E-04 |
| D/V | None | None | 0.999 | D | 0.727 | 0.676 | 0.886516015246 | gnomAD-4.0.0 | 2.05401E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79983E-06 | 0 | 1.65837E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2036 | likely_benign | 0.186 | benign | -0.359 | Destabilizing | 0.996 | D | 0.61 | neutral | D | 0.585007358 | None | None | N |
| D/C | 0.7331 | likely_pathogenic | 0.7152 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| D/E | 0.1571 | likely_benign | 0.1508 | benign | -0.348 | Destabilizing | 0.767 | D | 0.321 | neutral | N | 0.51926962 | None | None | N |
| D/F | 0.6366 | likely_pathogenic | 0.6058 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/G | 0.1751 | likely_benign | 0.1633 | benign | -0.544 | Destabilizing | 0.998 | D | 0.655 | neutral | N | 0.433718911 | None | None | N |
| D/H | 0.3481 | ambiguous | 0.3244 | benign | 0.111 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.635327467 | None | None | N |
| D/I | 0.4158 | ambiguous | 0.3831 | ambiguous | 0.082 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/K | 0.2969 | likely_benign | 0.2908 | benign | 0.244 | Stabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| D/L | 0.4374 | ambiguous | 0.4158 | ambiguous | 0.082 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| D/M | 0.6019 | likely_pathogenic | 0.601 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| D/N | 0.0934 | likely_benign | 0.0862 | benign | -0.099 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | D | 0.545974451 | None | None | N |
| D/P | 0.6979 | likely_pathogenic | 0.6955 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/Q | 0.3258 | likely_benign | 0.3141 | benign | -0.069 | Destabilizing | 0.999 | D | 0.76 | deleterious | None | None | None | None | N |
| D/R | 0.3492 | ambiguous | 0.3351 | benign | 0.511 | Stabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| D/S | 0.1337 | likely_benign | 0.1252 | benign | -0.208 | Destabilizing | 0.997 | D | 0.633 | neutral | None | None | None | None | N |
| D/T | 0.2603 | likely_benign | 0.2449 | benign | -0.058 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/V | 0.2724 | likely_benign | 0.2442 | benign | -0.044 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | D | 0.686274194 | None | None | N |
| D/W | 0.8716 | likely_pathogenic | 0.873 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/Y | 0.2847 | likely_benign | 0.2678 | benign | 0.013 | Stabilizing | 1.0 | D | 0.741 | deleterious | D | 0.663910311 | 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.