Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7199 | 21820;21821;21822 | chr2:178723505;178723504;178723503 | chr2:179588232;179588231;179588230 |
| N2AB | 6882 | 20869;20870;20871 | chr2:178723505;178723504;178723503 | chr2:179588232;179588231;179588230 |
| N2A | 5955 | 18088;18089;18090 | chr2:178723505;178723504;178723503 | chr2:179588232;179588231;179588230 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/S | rs781566455  |
None | 0.012 | N | 0.545 | 0.242 | 0.633806126401 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/S | rs781566455 |
None | 0.012 | N | 0.545 | 0.242 | 0.633806126401 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | N | None | 2.41278E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs781566455 |
-2.523 | None | N | 0.447 | 0.214 | 0.572208630285 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| I/T | rs781566455 |
-2.523 | None | N | 0.447 | 0.214 | 0.572208630285 | 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 |
| I/T | rs781566455 |
-2.523 | None | N | 0.447 | 0.214 | 0.572208630285 | gnomAD-4.0.0 | 4.95888E-06 | None | None | None | None | N | None | 4.00523E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23865E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1104 | likely_benign | 0.1301 | benign | -2.752 | Highly Destabilizing | None | N | 0.391 | neutral | None | None | None | None | N |
| I/C | 0.5631 | ambiguous | 0.6302 | pathogenic | -2.502 | Highly Destabilizing | 0.356 | N | 0.637 | neutral | None | None | None | None | N |
| I/D | 0.7066 | likely_pathogenic | 0.8063 | pathogenic | -3.252 | Highly Destabilizing | 0.136 | N | 0.676 | prob.neutral | None | None | None | None | N |
| I/E | 0.6409 | likely_pathogenic | 0.755 | pathogenic | -3.092 | Highly Destabilizing | 0.136 | N | 0.651 | neutral | None | None | None | None | N |
| I/F | 0.3226 | likely_benign | 0.3727 | ambiguous | -1.795 | Destabilizing | 0.055 | N | 0.608 | neutral | N | 0.488814017 | None | None | N |
| I/G | 0.4598 | ambiguous | 0.5188 | ambiguous | -3.241 | Highly Destabilizing | 0.072 | N | 0.604 | neutral | None | None | None | None | N |
| I/H | 0.6855 | likely_pathogenic | 0.7964 | pathogenic | -2.515 | Highly Destabilizing | 0.864 | D | 0.663 | neutral | None | None | None | None | N |
| I/K | 0.5802 | likely_pathogenic | 0.7349 | pathogenic | -2.229 | Highly Destabilizing | 0.136 | N | 0.653 | neutral | None | None | None | None | N |
| I/L | 0.1191 | likely_benign | 0.131 | benign | -1.362 | Destabilizing | None | N | 0.183 | neutral | N | 0.447558145 | None | None | N |
| I/M | 0.098 | likely_benign | 0.1109 | benign | -1.438 | Destabilizing | 0.171 | N | 0.615 | neutral | D | 0.530542101 | None | None | N |
| I/N | 0.2946 | likely_benign | 0.4198 | ambiguous | -2.501 | Highly Destabilizing | 0.295 | N | 0.711 | prob.delet. | N | 0.512033607 | None | None | N |
| I/P | 0.4797 | ambiguous | 0.5717 | pathogenic | -1.805 | Destabilizing | 0.136 | N | 0.701 | prob.neutral | None | None | None | None | N |
| I/Q | 0.5866 | likely_pathogenic | 0.7107 | pathogenic | -2.497 | Highly Destabilizing | 0.628 | D | 0.709 | prob.delet. | None | None | None | None | N |
| I/R | 0.4549 | ambiguous | 0.6132 | pathogenic | -1.731 | Destabilizing | 0.356 | N | 0.71 | prob.delet. | None | None | None | None | N |
| I/S | 0.1827 | likely_benign | 0.2436 | benign | -3.189 | Highly Destabilizing | 0.012 | N | 0.545 | neutral | N | 0.514033853 | None | None | N |
| I/T | 0.0568 | likely_benign | 0.08 | benign | -2.89 | Highly Destabilizing | None | N | 0.447 | neutral | N | 0.485385814 | None | None | N |
| I/V | 0.0562 | likely_benign | 0.0514 | benign | -1.805 | Destabilizing | None | N | 0.168 | neutral | N | 0.351314103 | None | None | N |
| I/W | 0.8763 | likely_pathogenic | 0.9148 | pathogenic | -2.088 | Highly Destabilizing | 0.864 | D | 0.65 | neutral | None | None | None | None | N |
| I/Y | 0.6812 | likely_pathogenic | 0.7711 | pathogenic | -1.876 | Destabilizing | 0.356 | N | 0.672 | neutral | 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.