Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5933 | 18022;18023;18024 | chr2:178730736;178730735;178730734 | chr2:179595463;179595462;179595461 |
| N2AB | 5616 | 17071;17072;17073 | chr2:178730736;178730735;178730734 | chr2:179595463;179595462;179595461 |
| N2A | 4689 | 14290;14291;14292 | chr2:178730736;178730735;178730734 | chr2:179595463;179595462;179595461 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs759141033  |
-0.804 | 1.0 | D | 0.775 | 0.883 | 0.910155467926 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/C | rs759141033 |
-0.804 | 1.0 | D | 0.775 | 0.883 | 0.910155467926 | gnomAD-4.0.0 | 8.22489E-06 | None | None | None | None | N | None | 0 | 4.48189E-05 | None | 0 | 0 | None | 0 | 0 | 8.10888E-06 | 0 | 1.65926E-05 |
| G/D | rs2080306772 |
None | 0.999 | D | 0.81 | 0.755 | 0.627475323314 | gnomAD-4.0.0 | 8.40225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-06 | 0 | 3.66327E-05 |
| G/S | rs759141033 |
-0.642 | 0.992 | D | 0.741 | 0.754 | 0.59581446357 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs759141033 |
-0.642 | 0.992 | D | 0.741 | 0.754 | 0.59581446357 | gnomAD-4.0.0 | 4.79785E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52564E-05 | None | 0 | 0 | 3.60395E-06 | 1.16201E-05 | 1.6592E-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 | 0.4631 | ambiguous | 0.5108 | ambiguous | -0.359 | Destabilizing | 0.884 | D | 0.358 | neutral | D | 0.610128253 | None | None | N |
| G/C | 0.7458 | likely_pathogenic | 0.7841 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.643004552 | None | None | N |
| G/D | 0.3138 | likely_benign | 0.3575 | ambiguous | -0.502 | Destabilizing | 0.999 | D | 0.81 | deleterious | D | 0.578796743 | None | None | N |
| G/E | 0.5246 | ambiguous | 0.5944 | pathogenic | -0.649 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| G/F | 0.9193 | likely_pathogenic | 0.9401 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/H | 0.7901 | likely_pathogenic | 0.8186 | pathogenic | -0.564 | Destabilizing | 0.844 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/I | 0.9051 | likely_pathogenic | 0.9355 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/K | 0.8765 | likely_pathogenic | 0.8992 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/L | 0.8953 | likely_pathogenic | 0.9199 | pathogenic | -0.41 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| G/M | 0.9088 | likely_pathogenic | 0.9322 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/N | 0.4107 | ambiguous | 0.4562 | ambiguous | -0.59 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| G/P | 0.9912 | likely_pathogenic | 0.9953 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/Q | 0.755 | likely_pathogenic | 0.7952 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/R | 0.8224 | likely_pathogenic | 0.8526 | pathogenic | -0.469 | Destabilizing | 0.999 | D | 0.805 | deleterious | D | 0.621241795 | None | None | N |
| G/S | 0.2382 | likely_benign | 0.2648 | benign | -0.787 | Destabilizing | 0.992 | D | 0.741 | deleterious | D | 0.579280714 | None | None | N |
| G/T | 0.6112 | likely_pathogenic | 0.676 | pathogenic | -0.86 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| G/V | 0.7957 | likely_pathogenic | 0.8538 | pathogenic | -0.358 | Destabilizing | 0.999 | D | 0.765 | deleterious | D | 0.633516162 | None | None | N |
| G/W | 0.8664 | likely_pathogenic | 0.8923 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/Y | 0.8224 | likely_pathogenic | 0.8502 | pathogenic | -0.748 | Destabilizing | 0.999 | D | 0.789 | 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.