Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2866 | 8821;8822;8823 | chr2:178770105;178770104;178770103 | chr2:179634832;179634831;179634830 |
| N2AB | 2866 | 8821;8822;8823 | chr2:178770105;178770104;178770103 | chr2:179634832;179634831;179634830 |
| N2A | 2866 | 8821;8822;8823 | chr2:178770105;178770104;178770103 | chr2:179634832;179634831;179634830 |
| N2B | 2820 | 8683;8684;8685 | chr2:178770105;178770104;178770103 | chr2:179634832;179634831;179634830 |
| Novex-1 | 2820 | 8683;8684;8685 | chr2:178770105;178770104;178770103 | chr2:179634832;179634831;179634830 |
| Novex-2 | 2820 | 8683;8684;8685 | chr2:178770105;178770104;178770103 | chr2:179634832;179634831;179634830 |
| Novex-3 | 2866 | 8821;8822;8823 | chr2:178770105;178770104;178770103 | chr2:179634832;179634831;179634830 |
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/T | rs147174853  |
-1.9 | 1.0 | N | 0.78 | 0.44 | None | gnomAD-2.1.1 | 1.59E-05 | None | None | None | None | N | None | 2.46063E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs147174853 |
-1.9 | 1.0 | N | 0.78 | 0.44 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs147174853 |
-1.9 | 1.0 | N | 0.78 | 0.44 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | rs147174853 |
-1.9 | 1.0 | N | 0.78 | 0.44 | None | gnomAD-4.0.0 | 3.71718E-06 | None | None | None | None | N | None | 7.99659E-05 | 0 | 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 | 0.5295 | ambiguous | 0.6284 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/D | 0.9977 | likely_pathogenic | 0.9988 | pathogenic | -2.431 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.510064745 | None | None | N |
| A/E | 0.9933 | likely_pathogenic | 0.9965 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| A/F | 0.868 | likely_pathogenic | 0.9397 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/G | 0.5075 | ambiguous | 0.6164 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.510064745 | None | None | N |
| A/H | 0.995 | likely_pathogenic | 0.9971 | pathogenic | -2.179 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/I | 0.466 | ambiguous | 0.6609 | pathogenic | 0.149 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/K | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/L | 0.4142 | ambiguous | 0.5546 | ambiguous | 0.149 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| A/M | 0.5034 | ambiguous | 0.6734 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/N | 0.987 | likely_pathogenic | 0.9941 | pathogenic | -1.641 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/P | 0.9922 | likely_pathogenic | 0.9955 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.510064745 | None | None | N |
| A/Q | 0.9862 | likely_pathogenic | 0.9913 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/R | 0.9944 | likely_pathogenic | 0.9959 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/S | 0.4573 | ambiguous | 0.5694 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.510064745 | None | None | N |
| A/T | 0.3509 | ambiguous | 0.525 | ambiguous | -1.716 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.508562755 | None | None | N |
| A/V | 0.1607 | likely_benign | 0.2627 | benign | -0.252 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.438093648 | None | None | N |
| A/W | 0.9961 | likely_pathogenic | 0.9981 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/Y | 0.982 | likely_pathogenic | 0.9899 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.847 | 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.