Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2875 | 8848;8849;8850 | chr2:178770078;178770077;178770076 | chr2:179634805;179634804;179634803 |
| N2AB | 2875 | 8848;8849;8850 | chr2:178770078;178770077;178770076 | chr2:179634805;179634804;179634803 |
| N2A | 2875 | 8848;8849;8850 | chr2:178770078;178770077;178770076 | chr2:179634805;179634804;179634803 |
| N2B | 2829 | 8710;8711;8712 | chr2:178770078;178770077;178770076 | chr2:179634805;179634804;179634803 |
| Novex-1 | 2829 | 8710;8711;8712 | chr2:178770078;178770077;178770076 | chr2:179634805;179634804;179634803 |
| Novex-2 | 2829 | 8710;8711;8712 | chr2:178770078;178770077;178770076 | chr2:179634805;179634804;179634803 |
| Novex-3 | 2875 | 8848;8849;8850 | chr2:178770078;178770077;178770076 | chr2:179634805;179634804;179634803 |
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 | rs2091251469  |
None | 1.0 | D | 0.686 | 0.498 | 0.437850553699 | 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 |
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 | 0.9321 | likely_pathogenic | 0.9176 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/D | 0.9956 | likely_pathogenic | 0.996 | pathogenic | -2.29 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| A/E | 0.9945 | likely_pathogenic | 0.9945 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.734946102 | None | None | N |
| A/F | 0.9938 | likely_pathogenic | 0.9927 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| A/G | 0.3449 | ambiguous | 0.3503 | ambiguous | -1.695 | Destabilizing | 1.0 | D | 0.559 | neutral | D | 0.585618011 | None | None | N |
| A/H | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| A/I | 0.9935 | likely_pathogenic | 0.9938 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/K | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/L | 0.9732 | likely_pathogenic | 0.9699 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/M | 0.973 | likely_pathogenic | 0.9727 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/N | 0.9895 | likely_pathogenic | 0.9898 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| A/P | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.735393149 | None | None | N |
| A/Q | 0.9896 | likely_pathogenic | 0.9888 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| A/R | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| A/S | 0.3414 | ambiguous | 0.3456 | ambiguous | -1.972 | Destabilizing | 1.0 | D | 0.576 | neutral | D | 0.624544069 | None | None | N |
| A/T | 0.8078 | likely_pathogenic | 0.8399 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | D | 0.642804877 | None | None | N |
| A/V | 0.9365 | likely_pathogenic | 0.945 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.621 | neutral | D | 0.687353053 | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/Y | 0.9968 | likely_pathogenic | 0.996 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.912 | 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.