Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28146 | 84661;84662;84663 | chr2:178561696;178561695;178561694 | chr2:179426423;179426422;179426421 |
| N2AB | 26505 | 79738;79739;79740 | chr2:178561696;178561695;178561694 | chr2:179426423;179426422;179426421 |
| N2A | 25578 | 76957;76958;76959 | chr2:178561696;178561695;178561694 | chr2:179426423;179426422;179426421 |
| N2B | 19081 | 57466;57467;57468 | chr2:178561696;178561695;178561694 | chr2:179426423;179426422;179426421 |
| Novex-1 | 19206 | 57841;57842;57843 | chr2:178561696;178561695;178561694 | chr2:179426423;179426422;179426421 |
| Novex-2 | 19273 | 58042;58043;58044 | chr2:178561696;178561695;178561694 | chr2:179426423;179426422;179426421 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs755354570  |
-0.764 | 0.682 | N | 0.492 | 0.369 | 0.630632415347 | gnomAD-2.1.1 | 1.09E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.37E-05 | 0 |
| V/A | rs755354570 |
-0.764 | 0.682 | N | 0.492 | 0.369 | 0.630632415347 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| V/A | rs755354570 |
-0.764 | 0.682 | N | 0.492 | 0.369 | 0.630632415347 | gnomAD-4.0.0 | 3.29632E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.25177E-05 | 0 | 4.82191E-05 |
| V/I | rs371366196 |
-0.393 | 0.007 | N | 0.205 | 0.027 | None | gnomAD-2.1.1 | 4.7E-05 | None | None | None | None | N | None | 0 | 2.86E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.7E-05 | 1.42572E-04 |
| V/I | rs371366196 |
-0.393 | 0.007 | N | 0.205 | 0.027 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 4.77555E-04 |
| V/I | rs371366196 |
-0.393 | 0.007 | N | 0.205 | 0.027 | None | gnomAD-4.0.0 | 7.02819E-05 | None | None | None | None | N | None | 0 | 3.35289E-05 | None | 0 | 0 | None | 0 | 1.65289E-04 | 8.75816E-05 | 0 | 1.12544E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2397 | likely_benign | 0.2616 | benign | -1.617 | Destabilizing | 0.682 | D | 0.492 | neutral | N | 0.508658884 | None | None | N |
| V/C | 0.7475 | likely_pathogenic | 0.7567 | pathogenic | -1.165 | Destabilizing | 0.996 | D | 0.825 | deleterious | None | None | None | None | N |
| V/D | 0.8499 | likely_pathogenic | 0.8882 | pathogenic | -1.614 | Destabilizing | 0.979 | D | 0.875 | deleterious | D | 0.528791055 | None | None | N |
| V/E | 0.6511 | likely_pathogenic | 0.7283 | pathogenic | -1.432 | Destabilizing | 0.984 | D | 0.827 | deleterious | None | None | None | None | N |
| V/F | 0.2801 | likely_benign | 0.3121 | benign | -0.928 | Destabilizing | 0.883 | D | 0.821 | deleterious | N | 0.493797086 | None | None | N |
| V/G | 0.5533 | ambiguous | 0.595 | pathogenic | -2.106 | Highly Destabilizing | 0.938 | D | 0.841 | deleterious | D | 0.528537565 | None | None | N |
| V/H | 0.8037 | likely_pathogenic | 0.8529 | pathogenic | -1.607 | Destabilizing | 0.996 | D | 0.873 | deleterious | None | None | None | None | N |
| V/I | 0.074 | likely_benign | 0.0752 | benign | -0.29 | Destabilizing | 0.007 | N | 0.205 | neutral | N | 0.44837929 | None | None | N |
| V/K | 0.5726 | likely_pathogenic | 0.6568 | pathogenic | -1.324 | Destabilizing | 0.953 | D | 0.829 | deleterious | None | None | None | None | N |
| V/L | 0.2558 | likely_benign | 0.2656 | benign | -0.29 | Destabilizing | 0.132 | N | 0.459 | neutral | N | 0.4806399 | None | None | N |
| V/M | 0.1579 | likely_benign | 0.1803 | benign | -0.322 | Destabilizing | 0.909 | D | 0.708 | prob.delet. | None | None | None | None | N |
| V/N | 0.7229 | likely_pathogenic | 0.7822 | pathogenic | -1.583 | Destabilizing | 0.984 | D | 0.879 | deleterious | None | None | None | None | N |
| V/P | 0.9477 | likely_pathogenic | 0.9549 | pathogenic | -0.702 | Destabilizing | 0.984 | D | 0.865 | deleterious | None | None | None | None | N |
| V/Q | 0.5803 | likely_pathogenic | 0.6529 | pathogenic | -1.451 | Destabilizing | 0.984 | D | 0.857 | deleterious | None | None | None | None | N |
| V/R | 0.5209 | ambiguous | 0.5931 | pathogenic | -1.141 | Destabilizing | 0.953 | D | 0.875 | deleterious | None | None | None | None | N |
| V/S | 0.4649 | ambiguous | 0.5247 | ambiguous | -2.234 | Highly Destabilizing | 0.953 | D | 0.806 | deleterious | None | None | None | None | N |
| V/T | 0.2225 | likely_benign | 0.2509 | benign | -1.895 | Destabilizing | 0.74 | D | 0.634 | neutral | None | None | None | None | N |
| V/W | 0.9111 | likely_pathogenic | 0.9269 | pathogenic | -1.302 | Destabilizing | 0.996 | D | 0.82 | deleterious | None | None | None | None | N |
| V/Y | 0.7437 | likely_pathogenic | 0.7676 | pathogenic | -0.897 | Destabilizing | 0.953 | D | 0.837 | 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.