Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19746 | 59461;59462;59463 | chr2:178592883;178592882;178592881 | chr2:179457610;179457609;179457608 |
| N2AB | 18105 | 54538;54539;54540 | chr2:178592883;178592882;178592881 | chr2:179457610;179457609;179457608 |
| N2A | 17178 | 51757;51758;51759 | chr2:178592883;178592882;178592881 | chr2:179457610;179457609;179457608 |
| N2B | 10681 | 32266;32267;32268 | chr2:178592883;178592882;178592881 | chr2:179457610;179457609;179457608 |
| Novex-1 | 10806 | 32641;32642;32643 | chr2:178592883;178592882;178592881 | chr2:179457610;179457609;179457608 |
| Novex-2 | 10873 | 32842;32843;32844 | chr2:178592883;178592882;178592881 | chr2:179457610;179457609;179457608 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | N | 0.669 | 0.44 | 0.623005408949 | gnomAD-4.0.0 | 6.84321E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99603E-07 | 0 | 0 |
| G/S | rs372802352  |
-0.327 | 0.999 | N | 0.494 | 0.322 | None | gnomAD-2.1.1 | 5.36E-05 | None | None | None | None | N | None | 4.54771E-04 | 8.49E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-06 | 0 |
| G/S | rs372802352 |
-0.327 | 0.999 | N | 0.494 | 0.322 | None | gnomAD-3.1.2 | 1.11847E-04 | None | None | None | None | N | None | 3.86417E-04 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs372802352 |
-0.327 | 0.999 | N | 0.494 | 0.322 | None | gnomAD-4.0.0 | 3.22322E-05 | None | None | None | None | N | None | 4.00759E-04 | 6.67223E-05 | None | 0 | 0 | None | 0 | 0 | 1.35642E-05 | 0 | 3.20287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1855 | likely_benign | 0.1751 | benign | -0.292 | Destabilizing | 0.996 | D | 0.503 | neutral | N | 0.498661115 | None | None | N |
| G/C | 0.3315 | likely_benign | 0.3139 | benign | -0.846 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.514905719 | None | None | N |
| G/D | 0.207 | likely_benign | 0.171 | benign | -0.356 | Destabilizing | 0.984 | D | 0.621 | neutral | N | 0.503072206 | None | None | N |
| G/E | 0.3081 | likely_benign | 0.2561 | benign | -0.482 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| G/F | 0.711 | likely_pathogenic | 0.6674 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/H | 0.4434 | ambiguous | 0.4055 | ambiguous | -0.577 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/I | 0.5923 | likely_pathogenic | 0.5293 | ambiguous | -0.273 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/K | 0.5765 | likely_pathogenic | 0.5049 | ambiguous | -0.775 | Destabilizing | 0.998 | D | 0.636 | neutral | None | None | None | None | N |
| G/L | 0.5885 | likely_pathogenic | 0.5475 | ambiguous | -0.273 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/M | 0.6057 | likely_pathogenic | 0.5639 | ambiguous | -0.442 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/N | 0.2176 | likely_benign | 0.2002 | benign | -0.417 | Destabilizing | 0.475 | N | 0.185 | neutral | None | None | None | None | N |
| G/P | 0.9171 | likely_pathogenic | 0.913 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| G/Q | 0.423 | ambiguous | 0.3738 | ambiguous | -0.628 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/R | 0.4961 | ambiguous | 0.4251 | ambiguous | -0.414 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.480810349 | None | None | N |
| G/S | 0.1158 | likely_benign | 0.1101 | benign | -0.633 | Destabilizing | 0.999 | D | 0.494 | neutral | N | 0.475833145 | None | None | N |
| G/T | 0.2503 | likely_benign | 0.2329 | benign | -0.669 | Destabilizing | 0.998 | D | 0.631 | neutral | None | None | None | None | N |
| G/V | 0.4484 | ambiguous | 0.4018 | ambiguous | -0.244 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.537275934 | None | None | N |
| G/W | 0.6445 | likely_pathogenic | 0.598 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/Y | 0.55 | ambiguous | 0.5186 | ambiguous | -0.707 | Destabilizing | 1.0 | D | 0.741 | 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.