Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31312 | 94159;94160;94161 | chr2:178547692;178547691;178547690 | chr2:179412419;179412418;179412417 |
| N2AB | 29671 | 89236;89237;89238 | chr2:178547692;178547691;178547690 | chr2:179412419;179412418;179412417 |
| N2A | 28744 | 86455;86456;86457 | chr2:178547692;178547691;178547690 | chr2:179412419;179412418;179412417 |
| N2B | 22247 | 66964;66965;66966 | chr2:178547692;178547691;178547690 | chr2:179412419;179412418;179412417 |
| Novex-1 | 22372 | 67339;67340;67341 | chr2:178547692;178547691;178547690 | chr2:179412419;179412418;179412417 |
| Novex-2 | 22439 | 67540;67541;67542 | chr2:178547692;178547691;178547690 | chr2:179412419;179412418;179412417 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.91 | N | 0.671 | 0.179 | 0.319970858106 | gnomAD-4.0.0 | 6.8417E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99429E-07 | 0 | 0 |
| V/G | rs201344229  |
-3.234 | 0.98 | N | 0.787 | 0.442 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 1.29182E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| V/G | rs201344229 |
-3.234 | 0.98 | N | 0.787 | 0.442 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs201344229 |
-3.234 | 0.98 | N | 0.787 | 0.442 | None | gnomAD-4.0.0 | 2.66451E-05 | None | None | None | None | N | None | 1.33444E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.55982E-05 | 0 | 0 |
| V/I | None | None | 0.984 | N | 0.606 | 0.22 | 0.418718287753 | gnomAD-4.0.0 | 6.84168E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99428E-07 | 0 | 0 |
| V/L | rs748475558 |
-0.877 | 0.954 | N | 0.677 | 0.212 | 0.29527378943 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| V/L | rs748475558 |
-0.877 | 0.954 | N | 0.677 | 0.212 | 0.29527378943 | gnomAD-4.0.0 | 2.0525E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47794E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.424 | ambiguous | 0.3793 | ambiguous | -2.127 | Highly Destabilizing | 0.91 | D | 0.671 | neutral | N | 0.416794442 | None | None | N |
| V/C | 0.8754 | likely_pathogenic | 0.827 | pathogenic | -2.119 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| V/D | 0.9917 | likely_pathogenic | 0.9808 | pathogenic | -2.71 | Highly Destabilizing | 0.996 | D | 0.815 | deleterious | None | None | None | None | N |
| V/E | 0.9797 | likely_pathogenic | 0.9624 | pathogenic | -2.447 | Highly Destabilizing | 0.994 | D | 0.775 | deleterious | N | 0.454582039 | None | None | N |
| V/F | 0.9052 | likely_pathogenic | 0.8683 | pathogenic | -1.281 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| V/G | 0.8166 | likely_pathogenic | 0.7334 | pathogenic | -2.689 | Highly Destabilizing | 0.98 | D | 0.787 | deleterious | N | 0.454582039 | None | None | N |
| V/H | 0.995 | likely_pathogenic | 0.9896 | pathogenic | -2.483 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/I | 0.1355 | likely_benign | 0.1286 | benign | -0.53 | Destabilizing | 0.984 | D | 0.606 | neutral | N | 0.454061964 | None | None | N |
| V/K | 0.9903 | likely_pathogenic | 0.9817 | pathogenic | -1.586 | Destabilizing | 0.996 | D | 0.776 | deleterious | None | None | None | None | N |
| V/L | 0.5559 | ambiguous | 0.5241 | ambiguous | -0.53 | Destabilizing | 0.954 | D | 0.677 | prob.neutral | N | 0.454408681 | None | None | N |
| V/M | 0.6653 | likely_pathogenic | 0.6097 | pathogenic | -1.011 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| V/N | 0.9685 | likely_pathogenic | 0.9346 | pathogenic | -2.067 | Highly Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| V/P | 0.315 | likely_benign | 0.2774 | benign | -1.038 | Destabilizing | 0.041 | N | 0.552 | neutral | None | None | None | None | N |
| V/Q | 0.982 | likely_pathogenic | 0.9666 | pathogenic | -1.826 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| V/R | 0.9831 | likely_pathogenic | 0.9709 | pathogenic | -1.621 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| V/S | 0.8298 | likely_pathogenic | 0.7518 | pathogenic | -2.71 | Highly Destabilizing | 0.985 | D | 0.775 | deleterious | None | None | None | None | N |
| V/T | 0.7081 | likely_pathogenic | 0.6301 | pathogenic | -2.286 | Highly Destabilizing | 0.985 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/W | 0.9989 | likely_pathogenic | 0.998 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| V/Y | 0.9931 | likely_pathogenic | 0.987 | pathogenic | -1.364 | Destabilizing | 0.999 | D | 0.783 | 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.