Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16629 | 50110;50111;50112 | chr2:178612836;178612835;178612834 | chr2:179477563;179477562;179477561 |
| N2AB | 14988 | 45187;45188;45189 | chr2:178612836;178612835;178612834 | chr2:179477563;179477562;179477561 |
| N2A | 14061 | 42406;42407;42408 | chr2:178612836;178612835;178612834 | chr2:179477563;179477562;179477561 |
| N2B | 7564 | 22915;22916;22917 | chr2:178612836;178612835;178612834 | chr2:179477563;179477562;179477561 |
| Novex-1 | 7689 | 23290;23291;23292 | chr2:178612836;178612835;178612834 | chr2:179477563;179477562;179477561 |
| Novex-2 | 7756 | 23491;23492;23493 | chr2:178612836;178612835;178612834 | chr2:179477563;179477562;179477561 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.999 | D | 0.603 | 0.582 | 0.372446077551 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/I | rs761960063  |
0.323 | 1.0 | D | 0.792 | 0.652 | 0.69164156201 | gnomAD-4.0.0 | 1.59398E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88374E-05 | 0 | 0 | 0 | 0 |
| N/T | None | None | 0.999 | D | 0.711 | 0.581 | 0.396794106654 | gnomAD-4.0.0 | 3.18795E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58878E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9895 | likely_pathogenic | 0.9956 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/C | 0.9195 | likely_pathogenic | 0.9521 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/D | 0.9856 | likely_pathogenic | 0.9938 | pathogenic | -2.11 | Highly Destabilizing | 0.999 | D | 0.603 | neutral | D | 0.71343903 | None | None | N |
| N/E | 0.9974 | likely_pathogenic | 0.9988 | pathogenic | -1.952 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| N/F | 0.9987 | likely_pathogenic | 0.9994 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| N/G | 0.9698 | likely_pathogenic | 0.9849 | pathogenic | -0.61 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | N |
| N/H | 0.9689 | likely_pathogenic | 0.9867 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.786508598 | None | None | N |
| N/I | 0.9885 | likely_pathogenic | 0.9945 | pathogenic | 0.537 | Stabilizing | 1.0 | D | 0.792 | deleterious | D | 0.786592015 | None | None | N |
| N/K | 0.9975 | likely_pathogenic | 0.999 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.784411713 | None | None | N |
| N/L | 0.9629 | likely_pathogenic | 0.9788 | pathogenic | 0.537 | Stabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| N/M | 0.9863 | likely_pathogenic | 0.9932 | pathogenic | 0.771 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| N/P | 0.9943 | likely_pathogenic | 0.9973 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| N/Q | 0.9964 | likely_pathogenic | 0.9984 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/R | 0.9953 | likely_pathogenic | 0.9977 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/S | 0.6974 | likely_pathogenic | 0.8303 | pathogenic | -0.872 | Destabilizing | 0.999 | D | 0.582 | neutral | D | 0.605367304 | None | None | N |
| N/T | 0.8797 | likely_pathogenic | 0.926 | pathogenic | -0.563 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | D | 0.68622281 | None | None | N |
| N/V | 0.9822 | likely_pathogenic | 0.991 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/W | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/Y | 0.9908 | likely_pathogenic | 0.9961 | pathogenic | 0.203 | Stabilizing | 1.0 | D | 0.793 | deleterious | D | 0.786508598 | 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.