Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26481 | 79666;79667;79668 | chr2:178566691;178566690;178566689 | chr2:179431418;179431417;179431416 |
| N2AB | 24840 | 74743;74744;74745 | chr2:178566691;178566690;178566689 | chr2:179431418;179431417;179431416 |
| N2A | 23913 | 71962;71963;71964 | chr2:178566691;178566690;178566689 | chr2:179431418;179431417;179431416 |
| N2B | 17416 | 52471;52472;52473 | chr2:178566691;178566690;178566689 | chr2:179431418;179431417;179431416 |
| Novex-1 | 17541 | 52846;52847;52848 | chr2:178566691;178566690;178566689 | chr2:179431418;179431417;179431416 |
| Novex-2 | 17608 | 53047;53048;53049 | chr2:178566691;178566690;178566689 | chr2:179431418;179431417;179431416 |
| 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/D | None | None | 1.0 | N | 0.796 | 0.543 | 0.699497320795 | gnomAD-4.0.0 | 1.59236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85896E-06 | 0 | 0 |
| A/G | None | None | 0.999 | N | 0.545 | 0.32 | 0.570720304676 | gnomAD-4.0.0 | 1.59236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85896E-06 | 0 | 0 |
| A/V | rs1320046233  |
-0.705 | 0.999 | N | 0.647 | 0.325 | 0.538974603628 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1320046233 |
-0.705 | 0.999 | N | 0.647 | 0.325 | 0.538974603628 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1320046233 |
-0.705 | 0.999 | N | 0.647 | 0.325 | 0.538974603628 | gnomAD-4.0.0 | 3.84587E-06 | None | None | None | None | N | None | 0 | 5.08768E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.8295 | likely_pathogenic | 0.798 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| A/D | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -3.094 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.50134587 | None | None | N |
| A/E | 0.9959 | likely_pathogenic | 0.9957 | pathogenic | -2.908 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/F | 0.9834 | likely_pathogenic | 0.9834 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/G | 0.5877 | likely_pathogenic | 0.5474 | ambiguous | -1.956 | Destabilizing | 0.999 | D | 0.545 | neutral | N | 0.50134587 | None | None | N |
| A/H | 0.9969 | likely_pathogenic | 0.9966 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/I | 0.9066 | likely_pathogenic | 0.9102 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/L | 0.832 | likely_pathogenic | 0.8431 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/M | 0.9009 | likely_pathogenic | 0.9063 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/N | 0.986 | likely_pathogenic | 0.9849 | pathogenic | -1.898 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/P | 0.8673 | likely_pathogenic | 0.8808 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.487290085 | None | None | N |
| A/Q | 0.9906 | likely_pathogenic | 0.9908 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/R | 0.9943 | likely_pathogenic | 0.9941 | pathogenic | -1.449 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/S | 0.4979 | ambiguous | 0.4515 | ambiguous | -2.197 | Highly Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.478695711 | None | None | N |
| A/T | 0.8301 | likely_pathogenic | 0.7988 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.511590115 | None | None | N |
| A/V | 0.7485 | likely_pathogenic | 0.7298 | pathogenic | -0.821 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.499199608 | None | None | N |
| A/W | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/Y | 0.9936 | likely_pathogenic | 0.9926 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.821 | 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.