Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2513 | 7762;7763;7764 | chr2:178773519;178773518;178773517 | chr2:179638246;179638245;179638244 |
| N2AB | 2513 | 7762;7763;7764 | chr2:178773519;178773518;178773517 | chr2:179638246;179638245;179638244 |
| N2A | 2513 | 7762;7763;7764 | chr2:178773519;178773518;178773517 | chr2:179638246;179638245;179638244 |
| N2B | 2467 | 7624;7625;7626 | chr2:178773519;178773518;178773517 | chr2:179638246;179638245;179638244 |
| Novex-1 | 2467 | 7624;7625;7626 | chr2:178773519;178773518;178773517 | chr2:179638246;179638245;179638244 |
| Novex-2 | 2467 | 7624;7625;7626 | chr2:178773519;178773518;178773517 | chr2:179638246;179638245;179638244 |
| Novex-3 | 2513 | 7762;7763;7764 | chr2:178773519;178773518;178773517 | chr2:179638246;179638245;179638244 |
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/R | rs150208472  |
-0.461 | 1.0 | D | 0.765 | 0.8 | 0.818560298674 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| G/R | rs150208472 |
-0.461 | 1.0 | D | 0.765 | 0.8 | 0.818560298674 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs150208472 |
-0.461 | 1.0 | D | 0.765 | 0.8 | 0.818560298674 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 2E-03 | None | None | None | 0 | None |
| G/R | rs150208472 |
-0.461 | 1.0 | D | 0.765 | 0.8 | 0.818560298674 | gnomAD-4.0.0 | 2.56153E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78391E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3543 | ambiguous | 0.3588 | ambiguous | -0.711 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.615587151 | None | None | N |
| G/C | 0.7053 | likely_pathogenic | 0.6974 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/D | 0.8946 | likely_pathogenic | 0.8833 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/E | 0.9101 | likely_pathogenic | 0.9047 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.781556022 | None | None | N |
| G/F | 0.9321 | likely_pathogenic | 0.9319 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/H | 0.96 | likely_pathogenic | 0.9597 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/I | 0.8976 | likely_pathogenic | 0.8893 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/K | 0.9389 | likely_pathogenic | 0.9357 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/L | 0.8943 | likely_pathogenic | 0.8901 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/M | 0.9244 | likely_pathogenic | 0.9233 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/N | 0.899 | likely_pathogenic | 0.8928 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/P | 0.9949 | likely_pathogenic | 0.9953 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/Q | 0.9233 | likely_pathogenic | 0.9225 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/R | 0.9164 | likely_pathogenic | 0.9112 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.744601209 | None | None | N |
| G/S | 0.4744 | ambiguous | 0.4645 | ambiguous | -1.245 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/T | 0.8125 | likely_pathogenic | 0.8086 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/V | 0.8271 | likely_pathogenic | 0.8199 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.781556022 | None | None | N |
| G/W | 0.94 | likely_pathogenic | 0.9391 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9264 | likely_pathogenic | 0.9262 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | 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.