Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2386 | 7381;7382;7383 | chr2:178774012;178774011;178774010 | chr2:179638739;179638738;179638737 |
| N2AB | 2386 | 7381;7382;7383 | chr2:178774012;178774011;178774010 | chr2:179638739;179638738;179638737 |
| N2A | 2386 | 7381;7382;7383 | chr2:178774012;178774011;178774010 | chr2:179638739;179638738;179638737 |
| N2B | 2340 | 7243;7244;7245 | chr2:178774012;178774011;178774010 | chr2:179638739;179638738;179638737 |
| Novex-1 | 2340 | 7243;7244;7245 | chr2:178774012;178774011;178774010 | chr2:179638739;179638738;179638737 |
| Novex-2 | 2340 | 7243;7244;7245 | chr2:178774012;178774011;178774010 | chr2:179638739;179638738;179638737 |
| Novex-3 | 2386 | 7381;7382;7383 | chr2:178774012;178774011;178774010 | chr2:179638739;179638738;179638737 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs142926566  |
-1.713 | 1.0 | D | 0.767 | 0.767 | None | gnomAD-2.1.1 | 3.54E-05 | None | None | None | None | N | None | 2.80426E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.76E-06 | 2.77546E-04 |
| G/D | rs142926566 |
-1.713 | 1.0 | D | 0.767 | 0.767 | None | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 2.17161E-04 | 0 | 0 | 0 | 0 | None | 0 | 9.49367E-03 | 0 | 0 | 0 |
| G/D | rs142926566 |
-1.713 | 1.0 | D | 0.767 | 0.767 | None | gnomAD-4.0.0 | 2.16843E-05 | None | None | None | None | N | None | 3.59818E-04 | 0 | None | 0 | 0 | None | 0 | 4.94886E-04 | 8.47475E-07 | 0 | 6.39959E-05 |
| G/S | rs777101912 |
-1.096 | 1.0 | D | 0.719 | 0.48 | 0.41921206133 | gnomAD-2.1.1 | 8.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.20422E-03 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs777101912 |
-1.096 | 1.0 | D | 0.719 | 0.48 | 0.41921206133 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs777101912 |
-1.096 | 1.0 | D | 0.719 | 0.48 | 0.41921206133 | gnomAD-4.0.0 | 1.23918E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.2337E-04 | None | 0 | 0 | 0 | 0 | 1.60036E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1728 | likely_benign | 0.182 | benign | -0.616 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.50696887 | None | None | N |
| G/C | 0.6112 | likely_pathogenic | 0.6328 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.572169159 | None | None | N |
| G/D | 0.9604 | likely_pathogenic | 0.9652 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.638262517 | None | None | N |
| G/E | 0.9624 | likely_pathogenic | 0.9652 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/F | 0.9796 | likely_pathogenic | 0.9806 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/H | 0.9875 | likely_pathogenic | 0.989 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/I | 0.8207 | likely_pathogenic | 0.8312 | pathogenic | 0.051 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/K | 0.9919 | likely_pathogenic | 0.9921 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/L | 0.93 | likely_pathogenic | 0.9321 | pathogenic | 0.051 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/M | 0.9199 | likely_pathogenic | 0.9255 | pathogenic | 0.069 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/N | 0.9514 | likely_pathogenic | 0.9584 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/P | 0.9227 | likely_pathogenic | 0.9374 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Q | 0.9831 | likely_pathogenic | 0.9841 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/R | 0.9831 | likely_pathogenic | 0.9837 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.531478282 | None | None | N |
| G/S | 0.3869 | ambiguous | 0.416 | ambiguous | -1.106 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.597900696 | None | None | N |
| G/T | 0.618 | likely_pathogenic | 0.6461 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/V | 0.5837 | likely_pathogenic | 0.604 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.459872523 | None | None | N |
| G/W | 0.9747 | likely_pathogenic | 0.9756 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| G/Y | 0.9716 | likely_pathogenic | 0.9736 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.785 | 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.