Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8901 | 26926;26927;26928 | chr2:178713957;178713956;178713955 | chr2:179578684;179578683;179578682 |
| N2AB | 8584 | 25975;25976;25977 | chr2:178713957;178713956;178713955 | chr2:179578684;179578683;179578682 |
| N2A | 7657 | 23194;23195;23196 | chr2:178713957;178713956;178713955 | chr2:179578684;179578683;179578682 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1405906564  |
None | 0.78 | N | 0.641 | 0.229 | 0.353125101423 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| S/C | rs1405906564 |
None | 0.78 | N | 0.641 | 0.229 | 0.353125101423 | 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 |
| S/C | rs1405906564 |
None | 0.78 | N | 0.641 | 0.229 | 0.353125101423 | gnomAD-4.0.0 | 5.12501E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57327E-06 | 0 | 0 |
| S/G | rs1405906564 |
-1.751 | 0.052 | N | 0.564 | 0.15 | 0.137902524267 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/G | rs1405906564 |
-1.751 | 0.052 | N | 0.564 | 0.15 | 0.137902524267 | 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 |
| S/G | rs1405906564 |
-1.751 | 0.052 | N | 0.564 | 0.15 | 0.137902524267 | gnomAD-4.0.0 | 3.84376E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78664E-06 | 1.34041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0905 | likely_benign | 0.1046 | benign | -0.797 | Destabilizing | 0.035 | N | 0.473 | neutral | None | None | None | None | N |
| S/C | 0.1257 | likely_benign | 0.1371 | benign | -0.224 | Destabilizing | 0.78 | D | 0.641 | neutral | N | 0.515334135 | None | None | N |
| S/D | 0.3649 | ambiguous | 0.4263 | ambiguous | -1.328 | Destabilizing | 0.081 | N | 0.585 | neutral | None | None | None | None | N |
| S/E | 0.4519 | ambiguous | 0.4976 | ambiguous | -1.062 | Destabilizing | 0.149 | N | 0.583 | neutral | None | None | None | None | N |
| S/F | 0.1733 | likely_benign | 0.2085 | benign | -0.577 | Destabilizing | 0.555 | D | 0.669 | neutral | None | None | None | None | N |
| S/G | 0.1088 | likely_benign | 0.1284 | benign | -1.226 | Destabilizing | 0.052 | N | 0.564 | neutral | N | 0.458756761 | None | None | N |
| S/H | 0.2367 | likely_benign | 0.2413 | benign | -1.379 | Destabilizing | 0.555 | D | 0.651 | neutral | None | None | None | None | N |
| S/I | 0.1373 | likely_benign | 0.1513 | benign | 0.329 | Stabilizing | 0.188 | N | 0.633 | neutral | N | 0.446068838 | None | None | N |
| S/K | 0.4533 | ambiguous | 0.4774 | ambiguous | 0.464 | Stabilizing | 0.149 | N | 0.589 | neutral | None | None | None | None | N |
| S/L | 0.0962 | likely_benign | 0.1102 | benign | 0.329 | Stabilizing | 0.081 | N | 0.604 | neutral | None | None | None | None | N |
| S/M | 0.1791 | likely_benign | 0.1919 | benign | 0.003 | Stabilizing | 0.555 | D | 0.651 | neutral | None | None | None | None | N |
| S/N | 0.1313 | likely_benign | 0.1519 | benign | -0.407 | Destabilizing | None | N | 0.37 | neutral | N | 0.470113066 | None | None | N |
| S/P | 0.8937 | likely_pathogenic | 0.9272 | pathogenic | -0.015 | Destabilizing | 0.555 | D | 0.625 | neutral | None | None | None | None | N |
| S/Q | 0.3919 | ambiguous | 0.4149 | ambiguous | -0.026 | Destabilizing | 0.555 | D | 0.588 | neutral | None | None | None | None | N |
| S/R | 0.3207 | likely_benign | 0.3388 | benign | -0.163 | Destabilizing | 0.317 | N | 0.62 | neutral | N | 0.454706964 | None | None | N |
| S/T | 0.059 | likely_benign | 0.0584 | benign | -0.03 | Destabilizing | None | N | 0.29 | neutral | N | 0.359735146 | None | None | N |
| S/V | 0.1545 | likely_benign | 0.1819 | benign | -0.015 | Destabilizing | 0.081 | N | 0.605 | neutral | None | None | None | None | N |
| S/W | 0.298 | likely_benign | 0.3342 | benign | -0.879 | Destabilizing | 0.935 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/Y | 0.146 | likely_benign | 0.1656 | benign | -0.366 | Destabilizing | 0.555 | D | 0.667 | 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.