Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26737 | 80434;80435;80436 | chr2:178565923;178565922;178565921 | chr2:179430650;179430649;179430648 |
| N2AB | 25096 | 75511;75512;75513 | chr2:178565923;178565922;178565921 | chr2:179430650;179430649;179430648 |
| N2A | 24169 | 72730;72731;72732 | chr2:178565923;178565922;178565921 | chr2:179430650;179430649;179430648 |
| N2B | 17672 | 53239;53240;53241 | chr2:178565923;178565922;178565921 | chr2:179430650;179430649;179430648 |
| Novex-1 | 17797 | 53614;53615;53616 | chr2:178565923;178565922;178565921 | chr2:179430650;179430649;179430648 |
| Novex-2 | 17864 | 53815;53816;53817 | chr2:178565923;178565922;178565921 | chr2:179430650;179430649;179430648 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs566764105  |
-0.967 | 0.262 | N | 0.415 | 0.391 | 0.558264529485 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.59343E-04 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs566764105 |
-0.967 | 0.262 | N | 0.415 | 0.391 | 0.558264529485 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.79598E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs566764105 |
-0.967 | 0.262 | N | 0.415 | 0.391 | 0.558264529485 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| C/S | rs566764105 |
-0.967 | 0.262 | N | 0.415 | 0.391 | 0.558264529485 | gnomAD-4.0.0 | 1.73524E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.24498E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6808 | likely_pathogenic | 0.6958 | pathogenic | -1.651 | Destabilizing | 0.879 | D | 0.498 | neutral | None | None | None | None | N |
| C/D | 0.9577 | likely_pathogenic | 0.9618 | pathogenic | -0.325 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| C/E | 0.9672 | likely_pathogenic | 0.9715 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| C/F | 0.5281 | ambiguous | 0.5722 | pathogenic | -1.142 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | N | 0.491737538 | None | None | N |
| C/G | 0.5345 | ambiguous | 0.5319 | ambiguous | -1.994 | Destabilizing | 0.906 | D | 0.744 | deleterious | N | 0.469074152 | None | None | N |
| C/H | 0.8757 | likely_pathogenic | 0.893 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| C/I | 0.5403 | ambiguous | 0.5871 | pathogenic | -0.741 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| C/K | 0.9852 | likely_pathogenic | 0.9868 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| C/L | 0.676 | likely_pathogenic | 0.7028 | pathogenic | -0.741 | Destabilizing | 0.997 | D | 0.587 | neutral | None | None | None | None | N |
| C/M | 0.7752 | likely_pathogenic | 0.8016 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| C/N | 0.7156 | likely_pathogenic | 0.7512 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| C/P | 0.9611 | likely_pathogenic | 0.9637 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| C/Q | 0.9249 | likely_pathogenic | 0.9327 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| C/R | 0.9359 | likely_pathogenic | 0.9406 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.502333374 | None | None | N |
| C/S | 0.5448 | ambiguous | 0.5627 | ambiguous | -1.262 | Destabilizing | 0.262 | N | 0.415 | neutral | N | 0.464297531 | None | None | N |
| C/T | 0.6609 | likely_pathogenic | 0.6843 | pathogenic | -0.867 | Destabilizing | 0.944 | D | 0.635 | neutral | None | None | None | None | N |
| C/V | 0.4481 | ambiguous | 0.4929 | ambiguous | -1.02 | Destabilizing | 0.979 | D | 0.674 | neutral | None | None | None | None | N |
| C/W | 0.8437 | likely_pathogenic | 0.8699 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.521958567 | None | None | N |
| C/Y | 0.6661 | likely_pathogenic | 0.6954 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.480888211 | 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.