Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6657 | 20194;20195;20196 | chr2:178727609;178727608;178727607 | chr2:179592336;179592335;179592334 |
| N2AB | 6340 | 19243;19244;19245 | chr2:178727609;178727608;178727607 | chr2:179592336;179592335;179592334 |
| N2A | 5413 | 16462;16463;16464 | chr2:178727609;178727608;178727607 | chr2:179592336;179592335;179592334 |
| 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/F | rs776748717  |
-1.532 | 1.0 | N | 0.874 | 0.461 | 0.843383936846 | gnomAD-2.1.1 | 7.6E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.04471E-04 | None | 0 | None | 0 | 0 | 0 |
| C/F | rs776748717 |
-1.532 | 1.0 | N | 0.874 | 0.461 | 0.843383936846 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/F | rs776748717 |
-1.532 | 1.0 | N | 0.874 | 0.461 | 0.843383936846 | gnomAD-4.0.0 | 2.51707E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.48189E-05 | None | 0 | 0 | 0 | 0 | 3.25489E-05 |
| C/Y | None | None | 1.0 | D | 0.874 | 0.47 | 0.807364678773 | gnomAD-4.0.0 | 1.3917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81817E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5203 | ambiguous | 0.5044 | ambiguous | -2.23 | Highly Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| C/D | 0.82 | likely_pathogenic | 0.8447 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| C/E | 0.9228 | likely_pathogenic | 0.9185 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| C/F | 0.3659 | ambiguous | 0.3456 | ambiguous | -1.503 | Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.496657468 | None | None | N |
| C/G | 0.3518 | ambiguous | 0.3483 | ambiguous | -2.568 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.501430408 | None | None | N |
| C/H | 0.7735 | likely_pathogenic | 0.7747 | pathogenic | -2.566 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| C/I | 0.6912 | likely_pathogenic | 0.6289 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| C/K | 0.9479 | likely_pathogenic | 0.9442 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| C/L | 0.6859 | likely_pathogenic | 0.6698 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| C/M | 0.779 | likely_pathogenic | 0.765 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| C/N | 0.7562 | likely_pathogenic | 0.7388 | pathogenic | -1.732 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| C/P | 0.991 | likely_pathogenic | 0.9938 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| C/Q | 0.8413 | likely_pathogenic | 0.8344 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/R | 0.7293 | likely_pathogenic | 0.7428 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.894 | deleterious | N | 0.489313634 | None | None | N |
| C/S | 0.3444 | ambiguous | 0.3207 | benign | -2.24 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.495191802 | None | None | N |
| C/T | 0.5776 | likely_pathogenic | 0.5124 | ambiguous | -1.917 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| C/V | 0.5927 | likely_pathogenic | 0.5446 | ambiguous | -1.607 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/W | 0.7733 | likely_pathogenic | 0.7726 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.531651437 | None | None | N |
| C/Y | 0.6197 | likely_pathogenic | 0.5787 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.52572814 | 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.