Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7600 | 23023;23024;23025 | chr2:178721865;178721864;178721863 | chr2:179586592;179586591;179586590 |
| N2AB | 7283 | 22072;22073;22074 | chr2:178721865;178721864;178721863 | chr2:179586592;179586591;179586590 |
| N2A | 6356 | 19291;19292;19293 | chr2:178721865;178721864;178721863 | chr2:179586592;179586591;179586590 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs757523256  |
-1.638 | 0.192 | D | 0.399 | 0.297 | 0.332646915603 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 5.83E-05 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
| A/S | rs757523256 |
-1.638 | 0.192 | D | 0.399 | 0.297 | 0.332646915603 | gnomAD-4.0.0 | 4.79971E-06 | None | None | None | None | N | None | 0 | 4.59306E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45016E-05 | 0 |
| A/T | None | None | 0.42 | N | 0.323 | 0.391 | 0.383921772103 | gnomAD-4.0.0 | 1.5999E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8719E-06 | 0 | 0 |
| A/V | None | None | 0.997 | N | 0.579 | 0.399 | 0.539612970712 | gnomAD-4.0.0 | 1.59886E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87043E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7875 | likely_pathogenic | 0.7765 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| A/D | 0.9672 | likely_pathogenic | 0.9683 | pathogenic | -1.579 | Destabilizing | 0.997 | D | 0.731 | prob.delet. | D | 0.559967271 | None | None | N |
| A/E | 0.9623 | likely_pathogenic | 0.9642 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/F | 0.8698 | likely_pathogenic | 0.8946 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/G | 0.2777 | likely_benign | 0.3072 | benign | -1.385 | Destabilizing | 0.889 | D | 0.527 | neutral | N | 0.517748949 | None | None | N |
| A/H | 0.9779 | likely_pathogenic | 0.9773 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/I | 0.6816 | likely_pathogenic | 0.7404 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/K | 0.99 | likely_pathogenic | 0.9905 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/L | 0.663 | likely_pathogenic | 0.705 | pathogenic | -0.035 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| A/M | 0.6811 | likely_pathogenic | 0.7209 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| A/N | 0.941 | likely_pathogenic | 0.9433 | pathogenic | -1.132 | Destabilizing | 0.978 | D | 0.747 | deleterious | None | None | None | None | N |
| A/P | 0.9918 | likely_pathogenic | 0.9912 | pathogenic | -0.311 | Destabilizing | 0.998 | D | 0.731 | prob.delet. | D | 0.559967271 | None | None | N |
| A/Q | 0.949 | likely_pathogenic | 0.9488 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/R | 0.9707 | likely_pathogenic | 0.9715 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/S | 0.1795 | likely_benign | 0.1922 | benign | -1.603 | Destabilizing | 0.192 | N | 0.399 | neutral | D | 0.530888818 | None | None | N |
| A/T | 0.2204 | likely_benign | 0.2343 | benign | -1.392 | Destabilizing | 0.42 | N | 0.323 | neutral | N | 0.496638377 | None | None | N |
| A/V | 0.3426 | ambiguous | 0.4013 | ambiguous | -0.311 | Destabilizing | 0.997 | D | 0.579 | neutral | N | 0.484606827 | None | None | N |
| A/W | 0.9918 | likely_pathogenic | 0.9924 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/Y | 0.9678 | likely_pathogenic | 0.9708 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.764 | 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.