Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31480 | 94663;94664;94665 | chr2:178547087;178547086;178547085 | chr2:179411814;179411813;179411812 |
| N2AB | 29839 | 89740;89741;89742 | chr2:178547087;178547086;178547085 | chr2:179411814;179411813;179411812 |
| N2A | 28912 | 86959;86960;86961 | chr2:178547087;178547086;178547085 | chr2:179411814;179411813;179411812 |
| N2B | 22415 | 67468;67469;67470 | chr2:178547087;178547086;178547085 | chr2:179411814;179411813;179411812 |
| Novex-1 | 22540 | 67843;67844;67845 | chr2:178547087;178547086;178547085 | chr2:179411814;179411813;179411812 |
| Novex-2 | 22607 | 68044;68045;68046 | chr2:178547087;178547086;178547085 | chr2:179411814;179411813;179411812 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.992 | N | 0.481 | 0.412 | 0.282179105231 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Q/H | rs1182145400  |
-1.671 | 0.999 | N | 0.732 | 0.387 | 0.316494231283 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/H | rs1182145400 |
-1.671 | 0.999 | N | 0.732 | 0.387 | 0.316494231283 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77285E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.6011 | likely_pathogenic | 0.5661 | pathogenic | -1.02 | Destabilizing | 0.997 | D | 0.596 | neutral | None | None | None | None | N |
| Q/C | 0.8916 | likely_pathogenic | 0.8578 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| Q/D | 0.9814 | likely_pathogenic | 0.982 | pathogenic | -1.761 | Destabilizing | 0.997 | D | 0.575 | neutral | None | None | None | None | N |
| Q/E | 0.2704 | likely_benign | 0.2696 | benign | -1.482 | Destabilizing | 0.992 | D | 0.481 | neutral | N | 0.452696527 | None | None | N |
| Q/F | 0.9595 | likely_pathogenic | 0.9578 | pathogenic | -0.43 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| Q/G | 0.8624 | likely_pathogenic | 0.8614 | pathogenic | -1.486 | Destabilizing | 0.997 | D | 0.656 | neutral | None | None | None | None | N |
| Q/H | 0.8203 | likely_pathogenic | 0.8173 | pathogenic | -1.128 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | N | 0.513017054 | None | None | N |
| Q/I | 0.7388 | likely_pathogenic | 0.7217 | pathogenic | 0.253 | Stabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| Q/K | 0.8114 | likely_pathogenic | 0.8316 | pathogenic | -0.452 | Destabilizing | 0.997 | D | 0.591 | neutral | N | 0.486041096 | None | None | N |
| Q/L | 0.498 | ambiguous | 0.4992 | ambiguous | 0.253 | Stabilizing | 0.997 | D | 0.656 | neutral | N | 0.517057437 | None | None | N |
| Q/M | 0.5772 | likely_pathogenic | 0.5534 | ambiguous | 0.496 | Stabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| Q/N | 0.8707 | likely_pathogenic | 0.8585 | pathogenic | -1.323 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| Q/P | 0.9943 | likely_pathogenic | 0.9929 | pathogenic | -0.144 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | N | 0.503173203 | None | None | N |
| Q/R | 0.7658 | likely_pathogenic | 0.7893 | pathogenic | -0.679 | Destabilizing | 0.997 | D | 0.593 | neutral | N | 0.492313708 | None | None | N |
| Q/S | 0.5824 | likely_pathogenic | 0.5399 | ambiguous | -1.562 | Destabilizing | 0.997 | D | 0.556 | neutral | None | None | None | None | N |
| Q/T | 0.5813 | likely_pathogenic | 0.5618 | ambiguous | -1.085 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| Q/V | 0.5891 | likely_pathogenic | 0.5569 | ambiguous | -0.144 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| Q/W | 0.9767 | likely_pathogenic | 0.9776 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| Q/Y | 0.9413 | likely_pathogenic | 0.9376 | pathogenic | -0.111 | Destabilizing | 0.999 | D | 0.748 | 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.