Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6842 | 20749;20750;20751 | chr2:178725798;178725797;178725796 | chr2:179590525;179590524;179590523 |
| N2AB | 6525 | 19798;19799;19800 | chr2:178725798;178725797;178725796 | chr2:179590525;179590524;179590523 |
| N2A | 5598 | 17017;17018;17019 | chr2:178725798;178725797;178725796 | chr2:179590525;179590524;179590523 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs747784796  |
-1.126 | 0.722 | N | 0.63 | 0.354 | 0.301122078929 | gnomAD-2.1.1 | 2.04E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.34707E-04 | None | 0 | 9.01E-06 | 0 |
| D/G | rs747784796 |
-1.126 | 0.722 | N | 0.63 | 0.354 | 0.301122078929 | gnomAD-4.0.0 | 1.37473E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.26417E-05 | 5.85658E-05 | 1.66439E-05 |
| D/V | rs747784796 |
0.232 | 0.901 | N | 0.793 | 0.346 | 0.620998120304 | gnomAD-2.1.1 | 8.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.74E-05 | None | 0 | 0 | 0 |
| D/V | rs747784796 |
0.232 | 0.901 | N | 0.793 | 0.346 | 0.620998120304 | gnomAD-4.0.0 | 2.0621E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.51395E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2631 | likely_benign | 0.2003 | benign | -0.634 | Destabilizing | 0.565 | D | 0.739 | prob.delet. | N | 0.489439266 | None | None | I |
| D/C | 0.8571 | likely_pathogenic | 0.7173 | pathogenic | -0.287 | Destabilizing | 0.054 | N | 0.665 | neutral | None | None | None | None | I |
| D/E | 0.3999 | ambiguous | 0.31 | benign | -0.705 | Destabilizing | 0.008 | N | 0.177 | neutral | N | 0.517319301 | None | None | I |
| D/F | 0.8783 | likely_pathogenic | 0.7748 | pathogenic | -0.179 | Destabilizing | 0.987 | D | 0.818 | deleterious | None | None | None | None | I |
| D/G | 0.324 | likely_benign | 0.255 | benign | -0.998 | Destabilizing | 0.722 | D | 0.63 | neutral | N | 0.502457593 | None | None | I |
| D/H | 0.6601 | likely_pathogenic | 0.5291 | ambiguous | -0.48 | Destabilizing | 0.986 | D | 0.698 | prob.neutral | N | 0.504926355 | None | None | I |
| D/I | 0.7523 | likely_pathogenic | 0.5887 | pathogenic | 0.335 | Stabilizing | 0.961 | D | 0.823 | deleterious | None | None | None | None | I |
| D/K | 0.7762 | likely_pathogenic | 0.6769 | pathogenic | -0.467 | Destabilizing | 0.633 | D | 0.68 | prob.neutral | None | None | None | None | I |
| D/L | 0.7752 | likely_pathogenic | 0.6717 | pathogenic | 0.335 | Stabilizing | 0.923 | D | 0.786 | deleterious | None | None | None | None | I |
| D/M | 0.89 | likely_pathogenic | 0.795 | pathogenic | 0.761 | Stabilizing | 0.996 | D | 0.805 | deleterious | None | None | None | None | I |
| D/N | 0.1779 | likely_benign | 0.1476 | benign | -0.91 | Destabilizing | 0.722 | D | 0.589 | neutral | N | 0.507039495 | None | None | I |
| D/P | 0.9892 | likely_pathogenic | 0.9868 | pathogenic | 0.037 | Stabilizing | 0.961 | D | 0.732 | prob.delet. | None | None | None | None | I |
| D/Q | 0.6772 | likely_pathogenic | 0.5673 | pathogenic | -0.765 | Destabilizing | 0.858 | D | 0.575 | neutral | None | None | None | None | I |
| D/R | 0.7907 | likely_pathogenic | 0.7056 | pathogenic | -0.271 | Destabilizing | 0.923 | D | 0.809 | deleterious | None | None | None | None | I |
| D/S | 0.1679 | likely_benign | 0.139 | benign | -1.187 | Destabilizing | 0.237 | N | 0.312 | neutral | None | None | None | None | I |
| D/T | 0.4868 | ambiguous | 0.365 | ambiguous | -0.888 | Destabilizing | 0.775 | D | 0.677 | prob.neutral | None | None | None | None | I |
| D/V | 0.516 | ambiguous | 0.3657 | ambiguous | 0.037 | Stabilizing | 0.901 | D | 0.793 | deleterious | N | 0.490055341 | None | None | I |
| D/W | 0.9876 | likely_pathogenic | 0.9766 | pathogenic | 0.02 | Stabilizing | 0.996 | D | 0.773 | deleterious | None | None | None | None | I |
| D/Y | 0.6145 | likely_pathogenic | 0.466 | ambiguous | 0.069 | Stabilizing | 0.983 | D | 0.815 | deleterious | D | 0.534640405 | None | None | I |
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.