Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6782 | 20569;20570;20571 | chr2:178725978;178725977;178725976 | chr2:179590705;179590704;179590703 |
| N2AB | 6465 | 19618;19619;19620 | chr2:178725978;178725977;178725976 | chr2:179590705;179590704;179590703 |
| N2A | 5538 | 16837;16838;16839 | chr2:178725978;178725977;178725976 | chr2:179590705;179590704;179590703 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs748769034  |
-1.335 | 1.0 | D | 0.898 | 0.848 | 0.938715776434 | gnomAD-4.0.0 | 6.86143E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 2.52972E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs1193444668 |
-1.688 | 1.0 | D | 0.897 | 0.663 | 0.915343352074 | gnomAD-2.1.1 | 4.06E-06 | None | None | disulfide | None | N | None | 6.52E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs1193444668 |
-1.688 | 1.0 | D | 0.897 | 0.663 | 0.915343352074 | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs1193444668 |
-1.688 | 1.0 | D | 0.897 | 0.663 | 0.915343352074 | gnomAD-4.0.0 | 2.57643E-06 | None | None | disulfide | None | N | None | 3.39075E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7311 | likely_pathogenic | 0.8666 | pathogenic | -1.838 | Destabilizing | 0.982 | D | 0.677 | prob.neutral | None | None | disulfide | None | N |
| C/D | 0.9959 | likely_pathogenic | 0.9979 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9973 | likely_pathogenic | 0.9986 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | disulfide | None | N |
| C/F | 0.667 | likely_pathogenic | 0.7742 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.674111026 | disulfide | None | N |
| C/G | 0.5613 | ambiguous | 0.6986 | pathogenic | -2.183 | Highly Destabilizing | 0.181 | N | 0.669 | neutral | D | 0.648976523 | disulfide | None | N |
| C/H | 0.9882 | likely_pathogenic | 0.9936 | pathogenic | -2.409 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/I | 0.7875 | likely_pathogenic | 0.8756 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9978 | likely_pathogenic | 0.9989 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | disulfide | None | N |
| C/L | 0.7809 | likely_pathogenic | 0.871 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | disulfide | None | N |
| C/M | 0.8422 | likely_pathogenic | 0.9098 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.81 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9811 | likely_pathogenic | 0.9909 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9974 | likely_pathogenic | 0.9985 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9923 | likely_pathogenic | 0.9964 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9856 | likely_pathogenic | 0.9916 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.674716439 | disulfide | None | N |
| C/S | 0.8473 | likely_pathogenic | 0.9338 | pathogenic | -2.23 | Highly Destabilizing | 0.99 | D | 0.809 | deleterious | D | 0.642243748 | disulfide | None | N |
| C/T | 0.8668 | likely_pathogenic | 0.9394 | pathogenic | -1.829 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | disulfide | None | N |
| C/V | 0.6685 | likely_pathogenic | 0.7929 | pathogenic | -1.189 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9494 | likely_pathogenic | 0.9663 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.674716439 | disulfide | None | N |
| C/Y | 0.8911 | likely_pathogenic | 0.9359 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.648976523 | disulfide | 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.