Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15200 | 45823;45824;45825 | chr2:178621120;178621119;178621118 | chr2:179485847;179485846;179485845 |
| N2AB | 13559 | 40900;40901;40902 | chr2:178621120;178621119;178621118 | chr2:179485847;179485846;179485845 |
| N2A | 12632 | 38119;38120;38121 | chr2:178621120;178621119;178621118 | chr2:179485847;179485846;179485845 |
| N2B | 6135 | 18628;18629;18630 | chr2:178621120;178621119;178621118 | chr2:179485847;179485846;179485845 |
| Novex-1 | 6260 | 19003;19004;19005 | chr2:178621120;178621119;178621118 | chr2:179485847;179485846;179485845 |
| Novex-2 | 6327 | 19204;19205;19206 | chr2:178621120;178621119;178621118 | chr2:179485847;179485846;179485845 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs201057307  |
-1.628 | 0.434 | D | 0.339 | 0.719 | None | gnomAD-2.1.1 | 5.42007E-04 | None | None | None | None | N | None | 0 | 5.7E-05 | None | 1.17362E-02 | 0 | None | 0 | None | 0 | 1.80832E-04 | 7.06015E-04 |
| A/G | rs201057307 |
-1.628 | 0.434 | D | 0.339 | 0.719 | None | gnomAD-3.1.2 | 3.02847E-04 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 9.52656E-03 | 0 | None | 0 | 0 | 1.61989E-04 | 0 | 4.79386E-04 |
| A/G | rs201057307 |
-1.628 | 0.434 | D | 0.339 | 0.719 | None | gnomAD-4.0.0 | 3.41767E-04 | None | None | None | None | N | None | 0 | 6.69098E-05 | None | 1.25922E-02 | 0 | None | 0 | 1.15283E-03 | 8.48046E-05 | 6.59819E-05 | 9.93876E-04 |
| A/P | None | None | 1.0 | D | 0.788 | 0.624 | 0.548358248517 | gnomAD-4.0.0 | 6.84765E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99849E-07 | 0 | 0 |
| A/T | rs752318420 |
-1.37 | 0.999 | D | 0.67 | 0.357 | 0.414539908741 | gnomAD-2.1.1 | 3.64E-05 | None | None | None | None | N | None | 0 | 2.62498E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs752318420 |
-1.37 | 0.999 | D | 0.67 | 0.357 | 0.414539908741 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31406E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs752318420 |
-1.37 | 0.999 | D | 0.67 | 0.357 | 0.414539908741 | gnomAD-4.0.0 | 8.68365E-06 | None | None | None | None | N | None | 0 | 2.17399E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60308E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8162 | likely_pathogenic | 0.7594 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/D | 0.9928 | likely_pathogenic | 0.9929 | pathogenic | -2.147 | Highly Destabilizing | 0.999 | D | 0.773 | deleterious | D | 0.71406153 | None | None | N |
| A/E | 0.9905 | likely_pathogenic | 0.9902 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/F | 0.9824 | likely_pathogenic | 0.9774 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/G | 0.324 | likely_benign | 0.3505 | ambiguous | -1.522 | Destabilizing | 0.434 | N | 0.339 | neutral | D | 0.529074599 | None | None | N |
| A/H | 0.994 | likely_pathogenic | 0.9925 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/I | 0.9673 | likely_pathogenic | 0.9495 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/K | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/L | 0.9357 | likely_pathogenic | 0.9125 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| A/M | 0.9542 | likely_pathogenic | 0.9344 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/N | 0.9811 | likely_pathogenic | 0.9801 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/P | 0.9959 | likely_pathogenic | 0.9951 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.71406153 | None | None | N |
| A/Q | 0.9819 | likely_pathogenic | 0.9785 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/R | 0.9898 | likely_pathogenic | 0.9869 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/S | 0.2485 | likely_benign | 0.2497 | benign | -1.728 | Destabilizing | 0.996 | D | 0.554 | neutral | D | 0.605115885 | None | None | N |
| A/T | 0.589 | likely_pathogenic | 0.5396 | ambiguous | -1.484 | Destabilizing | 0.999 | D | 0.67 | neutral | D | 0.559680525 | None | None | N |
| A/V | 0.8259 | likely_pathogenic | 0.7479 | pathogenic | -0.296 | Destabilizing | 0.999 | D | 0.637 | neutral | D | 0.554784731 | None | None | N |
| A/W | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/Y | 0.9936 | likely_pathogenic | 0.9928 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.813 | 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.