Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33177 | 99754;99755;99756 | chr2:178537678;178537677;178537676 | chr2:179402405;179402404;179402403 |
| N2AB | 31536 | 94831;94832;94833 | chr2:178537678;178537677;178537676 | chr2:179402405;179402404;179402403 |
| N2A | 30609 | 92050;92051;92052 | chr2:178537678;178537677;178537676 | chr2:179402405;179402404;179402403 |
| N2B | 24112 | 72559;72560;72561 | chr2:178537678;178537677;178537676 | chr2:179402405;179402404;179402403 |
| Novex-1 | 24237 | 72934;72935;72936 | chr2:178537678;178537677;178537676 | chr2:179402405;179402404;179402403 |
| Novex-2 | 24304 | 73135;73136;73137 | chr2:178537678;178537677;178537676 | chr2:179402405;179402404;179402403 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | None | None | 1.0 | D | 0.735 | 0.691 | 0.370424759081 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| N/S | rs761530189  |
-0.494 | 0.996 | N | 0.59 | 0.642 | 0.298745278005 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs761530189 |
-0.494 | 0.996 | N | 0.59 | 0.642 | 0.298745278005 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs761530189 |
-0.494 | 0.996 | N | 0.59 | 0.642 | 0.298745278005 | gnomAD-4.0.0 | 7.43634E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.37838E-05 | 0 | None | 0 | 0 | 9.32372E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9853 | likely_pathogenic | 0.9901 | pathogenic | -0.6 | Destabilizing | 0.998 | D | 0.75 | deleterious | None | None | None | None | N |
| N/C | 0.9521 | likely_pathogenic | 0.9627 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| N/D | 0.9656 | likely_pathogenic | 0.9704 | pathogenic | -1.461 | Destabilizing | 0.996 | D | 0.623 | neutral | D | 0.544029749 | None | None | N |
| N/E | 0.9975 | likely_pathogenic | 0.9983 | pathogenic | -1.368 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| N/F | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| N/G | 0.9658 | likely_pathogenic | 0.9739 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.564 | neutral | None | None | None | None | N |
| N/H | 0.971 | likely_pathogenic | 0.9773 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.545297196 | None | None | N |
| N/I | 0.9932 | likely_pathogenic | 0.9955 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.545550686 | None | None | N |
| N/K | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.556146522 | None | None | N |
| N/L | 0.9765 | likely_pathogenic | 0.9823 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/M | 0.9902 | likely_pathogenic | 0.9925 | pathogenic | 0.645 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| N/P | 0.9967 | likely_pathogenic | 0.9977 | pathogenic | -0.044 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9967 | likely_pathogenic | 0.9976 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/R | 0.9961 | likely_pathogenic | 0.9975 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| N/S | 0.5487 | ambiguous | 0.6094 | pathogenic | -0.903 | Destabilizing | 0.996 | D | 0.59 | neutral | N | 0.495944727 | None | None | N |
| N/T | 0.8644 | likely_pathogenic | 0.8891 | pathogenic | -0.654 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | D | 0.526178983 | None | None | N |
| N/V | 0.9859 | likely_pathogenic | 0.9916 | pathogenic | -0.044 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9944 | likely_pathogenic | 0.9959 | pathogenic | -0.05 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.545297196 | 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.