Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23841 | 71746;71747;71748 | chr2:178574611;178574610;178574609 | chr2:179439338;179439337;179439336 |
| N2AB | 22200 | 66823;66824;66825 | chr2:178574611;178574610;178574609 | chr2:179439338;179439337;179439336 |
| N2A | 21273 | 64042;64043;64044 | chr2:178574611;178574610;178574609 | chr2:179439338;179439337;179439336 |
| N2B | 14776 | 44551;44552;44553 | chr2:178574611;178574610;178574609 | chr2:179439338;179439337;179439336 |
| Novex-1 | 14901 | 44926;44927;44928 | chr2:178574611;178574610;178574609 | chr2:179439338;179439337;179439336 |
| Novex-2 | 14968 | 45127;45128;45129 | chr2:178574611;178574610;178574609 | chr2:179439338;179439337;179439336 |
| 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/H | rs764809055  |
-0.856 | 0.993 | N | 0.754 | 0.352 | 0.336155897331 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| D/H | rs764809055 |
-0.856 | 0.993 | N | 0.754 | 0.352 | 0.336155897331 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/H | rs764809055 |
-0.856 | 0.993 | N | 0.754 | 0.352 | 0.336155897331 | gnomAD-4.0.0 | 3.7195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2391E-06 | 0 | 1.60159E-05 |
| D/N | rs764809055 |
0.322 | 0.946 | N | 0.683 | 0.241 | 0.248417906384 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs764809055 |
0.322 | 0.946 | N | 0.683 | 0.241 | 0.248417906384 | gnomAD-4.0.0 | 1.36887E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52411E-05 | None | 0 | 0 | 8.99679E-07 | 0 | 0 |
| D/Y | None | None | 0.998 | N | 0.815 | 0.373 | 0.641480902447 | gnomAD-4.0.0 | 2.73774E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59871E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2755 | likely_benign | 0.2211 | benign | -0.357 | Destabilizing | 0.716 | D | 0.711 | prob.delet. | N | 0.489930793 | None | None | N |
| D/C | 0.702 | likely_pathogenic | 0.6448 | pathogenic | 0.24 | Stabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | N |
| D/E | 0.1256 | likely_benign | 0.1215 | benign | -0.519 | Destabilizing | 0.016 | N | 0.209 | neutral | N | 0.482483503 | None | None | N |
| D/F | 0.6472 | likely_pathogenic | 0.5504 | ambiguous | -0.912 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | N |
| D/G | 0.2544 | likely_benign | 0.2011 | benign | -0.513 | Destabilizing | 0.834 | D | 0.695 | prob.neutral | N | 0.477902925 | None | None | N |
| D/H | 0.4104 | ambiguous | 0.346 | ambiguous | -1.117 | Destabilizing | 0.993 | D | 0.754 | deleterious | N | 0.472978627 | None | None | N |
| D/I | 0.5136 | ambiguous | 0.4136 | ambiguous | 0.001 | Stabilizing | 0.979 | D | 0.815 | deleterious | None | None | None | None | N |
| D/K | 0.584 | likely_pathogenic | 0.4875 | ambiguous | 0.322 | Stabilizing | 0.921 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/L | 0.4916 | ambiguous | 0.4176 | ambiguous | 0.001 | Stabilizing | 0.959 | D | 0.808 | deleterious | None | None | None | None | N |
| D/M | 0.642 | likely_pathogenic | 0.5788 | pathogenic | 0.47 | Stabilizing | 0.998 | D | 0.786 | deleterious | None | None | None | None | N |
| D/N | 0.1172 | likely_benign | 0.1071 | benign | 0.175 | Stabilizing | 0.946 | D | 0.683 | prob.neutral | N | 0.470706285 | None | None | N |
| D/P | 0.9684 | likely_pathogenic | 0.9359 | pathogenic | -0.099 | Destabilizing | 0.979 | D | 0.783 | deleterious | None | None | None | None | N |
| D/Q | 0.4041 | ambiguous | 0.3615 | ambiguous | 0.14 | Stabilizing | 0.921 | D | 0.747 | deleterious | None | None | None | None | N |
| D/R | 0.6512 | likely_pathogenic | 0.5449 | ambiguous | 0.097 | Stabilizing | 0.959 | D | 0.8 | deleterious | None | None | None | None | N |
| D/S | 0.1738 | likely_benign | 0.1454 | benign | 0.074 | Stabilizing | 0.769 | D | 0.605 | neutral | None | None | None | None | N |
| D/T | 0.2379 | likely_benign | 0.2205 | benign | 0.201 | Stabilizing | 0.959 | D | 0.746 | deleterious | None | None | None | None | N |
| D/V | 0.3355 | likely_benign | 0.2548 | benign | -0.099 | Destabilizing | 0.946 | D | 0.816 | deleterious | N | 0.509934379 | None | None | N |
| D/W | 0.9202 | likely_pathogenic | 0.8831 | pathogenic | -0.96 | Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| D/Y | 0.2894 | likely_benign | 0.2238 | benign | -0.71 | Destabilizing | 0.998 | D | 0.815 | deleterious | N | 0.493551644 | 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.