Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2109 | 6550;6551;6552 | chr2:178775539;178775538;178775537 | chr2:179640266;179640265;179640264 |
| N2AB | 2109 | 6550;6551;6552 | chr2:178775539;178775538;178775537 | chr2:179640266;179640265;179640264 |
| N2A | 2109 | 6550;6551;6552 | chr2:178775539;178775538;178775537 | chr2:179640266;179640265;179640264 |
| N2B | 2063 | 6412;6413;6414 | chr2:178775539;178775538;178775537 | chr2:179640266;179640265;179640264 |
| Novex-1 | 2063 | 6412;6413;6414 | chr2:178775539;178775538;178775537 | chr2:179640266;179640265;179640264 |
| Novex-2 | 2063 | 6412;6413;6414 | chr2:178775539;178775538;178775537 | chr2:179640266;179640265;179640264 |
| Novex-3 | 2109 | 6550;6551;6552 | chr2:178775539;178775538;178775537 | chr2:179640266;179640265;179640264 |
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 | rs773335568  |
-0.924 | 1.0 | N | 0.867 | 0.717 | 0.82484877143 | gnomAD-2.1.1 | 3.99E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 5.46E-05 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs773335568 |
-0.924 | 1.0 | N | 0.867 | 0.717 | 0.82484877143 | gnomAD-4.0.0 | 1.59081E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 2.77608E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs769946776 |
-1.271 | 1.0 | N | 0.864 | 0.556 | 0.703262793419 | gnomAD-2.1.1 | 5.58E-05 | None | None | disulfide | None | N | None | 0 | 4.05562E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs769946776 |
-1.271 | 1.0 | N | 0.864 | 0.556 | 0.703262793419 | gnomAD-4.0.0 | 1.16301E-05 | None | None | disulfide | None | N | None | 0 | 3.80313E-04 | 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 | 0.8463 | likely_pathogenic | 0.8831 | pathogenic | -1.453 | Destabilizing | 0.998 | D | 0.645 | neutral | None | None | disulfide | None | N |
| C/D | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9192 | likely_pathogenic | 0.9417 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.457926175 | disulfide | None | N |
| C/G | 0.8349 | likely_pathogenic | 0.874 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.507158356 | disulfide | None | N |
| C/H | 0.9975 | likely_pathogenic | 0.9985 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | disulfide | None | N |
| C/I | 0.7856 | likely_pathogenic | 0.796 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8384 | likely_pathogenic | 0.8591 | pathogenic | -0.538 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | disulfide | None | N |
| C/M | 0.9152 | likely_pathogenic | 0.9286 | pathogenic | 0.392 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9917 | likely_pathogenic | 0.9944 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9864 | likely_pathogenic | 0.9923 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9982 | likely_pathogenic | 0.9988 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9962 | likely_pathogenic | 0.9973 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.495394783 | disulfide | None | N |
| C/S | 0.934 | likely_pathogenic | 0.9572 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.50695778 | disulfide | None | N |
| C/T | 0.901 | likely_pathogenic | 0.9253 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | disulfide | None | N |
| C/V | 0.6176 | likely_pathogenic | 0.6297 | pathogenic | -0.824 | Destabilizing | 0.999 | D | 0.756 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9911 | likely_pathogenic | 0.9948 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.499216629 | disulfide | None | N |
| C/Y | 0.9807 | likely_pathogenic | 0.9883 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.472312922 | 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.