Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9149 | 27670;27671;27672 | chr2:178712477;178712476;178712475 | chr2:179577204;179577203;179577202 |
| N2AB | 8832 | 26719;26720;26721 | chr2:178712477;178712476;178712475 | chr2:179577204;179577203;179577202 |
| N2A | 7905 | 23938;23939;23940 | chr2:178712477;178712476;178712475 | chr2:179577204;179577203;179577202 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs755633188  |
-0.535 | 0.998 | N | 0.482 | 0.449 | 0.324986149311 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs755633188 |
-0.535 | 0.998 | N | 0.482 | 0.449 | 0.324986149311 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/A | rs755633188 |
-0.535 | 0.998 | N | 0.482 | 0.449 | 0.324986149311 | gnomAD-4.0.0 | 3.09859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23801E-06 | 0 | 0 |
| G/D | rs755633188 |
None | 1.0 | N | 0.728 | 0.406 | 0.337868961071 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/D | rs755633188 |
None | 1.0 | N | 0.728 | 0.406 | 0.337868961071 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs755633188 |
None | 1.0 | N | 0.728 | 0.406 | 0.337868961071 | gnomAD-4.0.0 | 1.23944E-06 | None | None | None | None | N | None | 0 | 1.66778E-05 | None | 0 | 0 | None | 0 | 0 | 8.47601E-07 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.739 | 0.565 | 0.638019369227 | gnomAD-4.0.0 | 6.84202E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2918 | likely_benign | 0.2358 | benign | -0.343 | Destabilizing | 0.998 | D | 0.482 | neutral | N | 0.482089526 | None | None | N |
| G/C | 0.4955 | ambiguous | 0.3666 | ambiguous | -0.791 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.542189189 | None | None | N |
| G/D | 0.1902 | likely_benign | 0.1564 | benign | -0.88 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.518014655 | None | None | N |
| G/E | 0.2894 | likely_benign | 0.2223 | benign | -1.047 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/F | 0.7728 | likely_pathogenic | 0.6882 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/H | 0.4764 | ambiguous | 0.3814 | ambiguous | -0.627 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/I | 0.6584 | likely_pathogenic | 0.5315 | ambiguous | -0.466 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/K | 0.5498 | ambiguous | 0.4345 | ambiguous | -0.971 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/L | 0.694 | likely_pathogenic | 0.5997 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/M | 0.6989 | likely_pathogenic | 0.5948 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/N | 0.2118 | likely_benign | 0.1805 | benign | -0.534 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/P | 0.9822 | likely_pathogenic | 0.97 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/Q | 0.3827 | ambiguous | 0.2984 | benign | -0.86 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/R | 0.3837 | ambiguous | 0.2944 | benign | -0.45 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.518044546 | None | None | N |
| G/S | 0.1246 | likely_benign | 0.1102 | benign | -0.631 | Destabilizing | 0.991 | D | 0.605 | neutral | N | 0.49735617 | None | None | N |
| G/T | 0.3803 | ambiguous | 0.3041 | benign | -0.741 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/V | 0.5721 | likely_pathogenic | 0.447 | ambiguous | -0.392 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.542189189 | None | None | N |
| G/W | 0.6362 | likely_pathogenic | 0.5117 | ambiguous | -1.244 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/Y | 0.6069 | likely_pathogenic | 0.4981 | ambiguous | -0.904 | Destabilizing | 1.0 | D | 0.741 | 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.