Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1640 | 5143;5144;5145 | chr2:178776946;178776945;178776944 | chr2:179641673;179641672;179641671 |
| N2AB | 1640 | 5143;5144;5145 | chr2:178776946;178776945;178776944 | chr2:179641673;179641672;179641671 |
| N2A | 1640 | 5143;5144;5145 | chr2:178776946;178776945;178776944 | chr2:179641673;179641672;179641671 |
| N2B | 1594 | 5005;5006;5007 | chr2:178776946;178776945;178776944 | chr2:179641673;179641672;179641671 |
| Novex-1 | 1594 | 5005;5006;5007 | chr2:178776946;178776945;178776944 | chr2:179641673;179641672;179641671 |
| Novex-2 | 1594 | 5005;5006;5007 | chr2:178776946;178776945;178776944 | chr2:179641673;179641672;179641671 |
| Novex-3 | 1640 | 5143;5144;5145 | chr2:178776946;178776945;178776944 | chr2:179641673;179641672;179641671 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | N | 0.512 | 0.44 | 0.460969658426 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| T/I | rs1176072451  |
-0.199 | 1.0 | N | 0.805 | 0.584 | 0.615425489776 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87687E-04 | 0 | 0 |
| T/I | rs1176072451 |
-0.199 | 1.0 | N | 0.805 | 0.584 | 0.615425489776 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| T/I | rs1176072451 |
-0.199 | 1.0 | N | 0.805 | 0.584 | 0.615425489776 | gnomAD-4.0.0 | 6.57298E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.41088E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.543 | ambiguous | 0.4495 | ambiguous | -0.826 | Destabilizing | 0.999 | D | 0.512 | neutral | N | 0.516419844 | None | None | N |
| T/C | 0.95 | likely_pathogenic | 0.9279 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/D | 0.9822 | likely_pathogenic | 0.9798 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| T/E | 0.9672 | likely_pathogenic | 0.9675 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| T/F | 0.9298 | likely_pathogenic | 0.8988 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| T/G | 0.906 | likely_pathogenic | 0.8748 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/H | 0.931 | likely_pathogenic | 0.9072 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| T/I | 0.7873 | likely_pathogenic | 0.7149 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.517485048 | None | None | N |
| T/K | 0.9266 | likely_pathogenic | 0.92 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/L | 0.6793 | likely_pathogenic | 0.5626 | ambiguous | -0.297 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| T/M | 0.4753 | ambiguous | 0.3693 | ambiguous | -0.002 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| T/N | 0.7853 | likely_pathogenic | 0.7119 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.675 | neutral | N | 0.519849628 | None | None | N |
| T/P | 0.9156 | likely_pathogenic | 0.8949 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.623769681 | None | None | N |
| T/Q | 0.9037 | likely_pathogenic | 0.8832 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| T/R | 0.9179 | likely_pathogenic | 0.9047 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| T/S | 0.5996 | likely_pathogenic | 0.5182 | ambiguous | -0.826 | Destabilizing | 0.999 | D | 0.501 | neutral | N | 0.496071604 | None | None | N |
| T/V | 0.613 | likely_pathogenic | 0.5413 | ambiguous | -0.442 | Destabilizing | 0.999 | D | 0.541 | neutral | None | None | None | None | N |
| T/W | 0.9862 | likely_pathogenic | 0.9831 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/Y | 0.9499 | likely_pathogenic | 0.9338 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.849 | 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.