Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22083 | 66472;66473;66474 | chr2:178582122;178582121;178582120 | chr2:179446849;179446848;179446847 |
| N2AB | 20442 | 61549;61550;61551 | chr2:178582122;178582121;178582120 | chr2:179446849;179446848;179446847 |
| N2A | 19515 | 58768;58769;58770 | chr2:178582122;178582121;178582120 | chr2:179446849;179446848;179446847 |
| N2B | 13018 | 39277;39278;39279 | chr2:178582122;178582121;178582120 | chr2:179446849;179446848;179446847 |
| Novex-1 | 13143 | 39652;39653;39654 | chr2:178582122;178582121;178582120 | chr2:179446849;179446848;179446847 |
| Novex-2 | 13210 | 39853;39854;39855 | chr2:178582122;178582121;178582120 | chr2:179446849;179446848;179446847 |
| 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 | rs1186241496  |
None | 1.0 | N | 0.708 | 0.465 | 0.37953744168 | 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/A | rs1186241496 |
None | 1.0 | N | 0.708 | 0.465 | 0.37953744168 | gnomAD-4.0.0 | 6.57722E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 0 | 0 |
| G/V | rs1186241496 |
-0.516 | 1.0 | N | 0.778 | 0.501 | 0.595701181261 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.665E-04 |
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 | 0.9575 | likely_pathogenic | 0.9154 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.516162123 | None | None | N |
| G/C | 0.9891 | likely_pathogenic | 0.9729 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/D | 0.9961 | likely_pathogenic | 0.995 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/E | 0.9976 | likely_pathogenic | 0.9962 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.522149604 | None | None | N |
| G/F | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/H | 0.9968 | likely_pathogenic | 0.9941 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/I | 0.9988 | likely_pathogenic | 0.9976 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/K | 0.9959 | likely_pathogenic | 0.9933 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/L | 0.9979 | likely_pathogenic | 0.9963 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/M | 0.9989 | likely_pathogenic | 0.9979 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/N | 0.9938 | likely_pathogenic | 0.9907 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Q | 0.9965 | likely_pathogenic | 0.9938 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/R | 0.9883 | likely_pathogenic | 0.9787 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.498791883 | None | None | N |
| G/S | 0.9485 | likely_pathogenic | 0.8876 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/T | 0.9954 | likely_pathogenic | 0.9893 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/V | 0.9975 | likely_pathogenic | 0.9947 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.519885106 | None | None | N |
| G/W | 0.9965 | likely_pathogenic | 0.9948 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.546890131 | None | None | N |
| G/Y | 0.9977 | likely_pathogenic | 0.9961 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.759 | 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.