Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15862 | 47809;47810;47811 | chr2:178617501;178617500;178617499 | chr2:179482228;179482227;179482226 |
| N2AB | 14221 | 42886;42887;42888 | chr2:178617501;178617500;178617499 | chr2:179482228;179482227;179482226 |
| N2A | 13294 | 40105;40106;40107 | chr2:178617501;178617500;178617499 | chr2:179482228;179482227;179482226 |
| N2B | 6797 | 20614;20615;20616 | chr2:178617501;178617500;178617499 | chr2:179482228;179482227;179482226 |
| Novex-1 | 6922 | 20989;20990;20991 | chr2:178617501;178617500;178617499 | chr2:179482228;179482227;179482226 |
| Novex-2 | 6989 | 21190;21191;21192 | chr2:178617501;178617500;178617499 | chr2:179482228;179482227;179482226 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs879096040  |
None | 1.0 | N | 0.866 | 0.366 | 0.331619326243 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07211E-04 | 0 |
| P/S | rs879096040 |
None | 1.0 | N | 0.866 | 0.366 | 0.331619326243 | gnomAD-4.0.0 | 3.78513E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.53596E-07 | 5.92459E-05 | 0 |
| P/T | None | None | 1.0 | D | 0.859 | 0.412 | 0.567785321435 | gnomAD-4.0.0 | 1.39536E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06093E-07 | 1.25679E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.078 | likely_benign | 0.1056 | benign | -1.53 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.471767133 | None | None | I |
| P/C | 0.5176 | ambiguous | 0.6968 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| P/D | 0.8554 | likely_pathogenic | 0.9124 | pathogenic | -2.236 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| P/E | 0.5422 | ambiguous | 0.6673 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| P/F | 0.6867 | likely_pathogenic | 0.8282 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | I |
| P/G | 0.4771 | ambiguous | 0.6169 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | I |
| P/H | 0.392 | ambiguous | 0.542 | ambiguous | -1.263 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.631743873 | None | None | I |
| P/I | 0.5112 | ambiguous | 0.6829 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | I |
| P/K | 0.4801 | ambiguous | 0.5973 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| P/L | 0.2612 | likely_benign | 0.4211 | ambiguous | -0.846 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.707656578 | None | None | I |
| P/M | 0.4781 | ambiguous | 0.6674 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| P/N | 0.7048 | likely_pathogenic | 0.8186 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| P/Q | 0.2611 | likely_benign | 0.3896 | ambiguous | -1.508 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| P/R | 0.311 | likely_benign | 0.413 | ambiguous | -0.729 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.596509127 | None | None | I |
| P/S | 0.1804 | likely_benign | 0.2696 | benign | -1.705 | Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.48010663 | None | None | I |
| P/T | 0.2449 | likely_benign | 0.3688 | ambiguous | -1.598 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.583621406 | None | None | I |
| P/V | 0.3394 | likely_benign | 0.4846 | ambiguous | -1.043 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | I |
| P/W | 0.8752 | likely_pathogenic | 0.9358 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| P/Y | 0.6878 | likely_pathogenic | 0.8257 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | 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.