Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20418 | 61477;61478;61479 | chr2:178590473;178590472;178590471 | chr2:179455200;179455199;179455198 |
| N2AB | 18777 | 56554;56555;56556 | chr2:178590473;178590472;178590471 | chr2:179455200;179455199;179455198 |
| N2A | 17850 | 53773;53774;53775 | chr2:178590473;178590472;178590471 | chr2:179455200;179455199;179455198 |
| N2B | 11353 | 34282;34283;34284 | chr2:178590473;178590472;178590471 | chr2:179455200;179455199;179455198 |
| Novex-1 | 11478 | 34657;34658;34659 | chr2:178590473;178590472;178590471 | chr2:179455200;179455199;179455198 |
| Novex-2 | 11545 | 34858;34859;34860 | chr2:178590473;178590472;178590471 | chr2:179455200;179455199;179455198 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | None | None | 1.0 | N | 0.644 | 0.496 | 0.77413480687 | gnomAD-4.0.0 | 6.84454E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.657E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9961 | likely_pathogenic | 0.9945 | pathogenic | -3.123 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/C | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.51112465 | None | None | N |
| W/D | 0.9974 | likely_pathogenic | 0.9961 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/E | 0.9984 | likely_pathogenic | 0.9974 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/F | 0.8739 | likely_pathogenic | 0.8625 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | N |
| W/G | 0.9759 | likely_pathogenic | 0.9673 | pathogenic | -3.306 | Highly Destabilizing | 1.0 | D | 0.644 | neutral | N | 0.517112131 | None | None | N |
| W/H | 0.9962 | likely_pathogenic | 0.9954 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/I | 0.9955 | likely_pathogenic | 0.993 | pathogenic | -2.456 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/K | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/L | 0.9872 | likely_pathogenic | 0.9812 | pathogenic | -2.456 | Highly Destabilizing | 1.0 | D | 0.644 | neutral | N | 0.508843245 | None | None | N |
| W/M | 0.996 | likely_pathogenic | 0.9941 | pathogenic | -1.817 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| W/N | 0.9978 | likely_pathogenic | 0.9967 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/P | 0.9964 | likely_pathogenic | 0.9956 | pathogenic | -2.694 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.762 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| W/R | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.516605152 | None | None | N |
| W/S | 0.9936 | likely_pathogenic | 0.9909 | pathogenic | -2.102 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.504830773 | None | None | N |
| W/T | 0.9957 | likely_pathogenic | 0.9937 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/V | 0.9949 | likely_pathogenic | 0.9922 | pathogenic | -2.694 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| W/Y | 0.947 | likely_pathogenic | 0.9399 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.541 | 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.