Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22623 | 68092;68093;68094 | chr2:178579163;178579162;178579161 | chr2:179443890;179443889;179443888 |
| N2AB | 20982 | 63169;63170;63171 | chr2:178579163;178579162;178579161 | chr2:179443890;179443889;179443888 |
| N2A | 20055 | 60388;60389;60390 | chr2:178579163;178579162;178579161 | chr2:179443890;179443889;179443888 |
| N2B | 13558 | 40897;40898;40899 | chr2:178579163;178579162;178579161 | chr2:179443890;179443889;179443888 |
| Novex-1 | 13683 | 41272;41273;41274 | chr2:178579163;178579162;178579161 | chr2:179443890;179443889;179443888 |
| Novex-2 | 13750 | 41473;41474;41475 | chr2:178579163;178579162;178579161 | chr2:179443890;179443889;179443888 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs765139811  |
-2.287 | 0.999 | N | 0.848 | 0.594 | 0.772838041564 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/N | rs765139811 |
-2.287 | 0.999 | N | 0.848 | 0.594 | 0.772838041564 | gnomAD-4.0.0 | 6.84343E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-05 | 0 |
| I/S | None | None | 0.998 | N | 0.824 | 0.549 | 0.70627472995 | gnomAD-4.0.0 | 6.84343E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52309E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | None | None | 0.989 | N | 0.79 | 0.481 | 0.607307720492 | gnomAD-4.0.0 | 2.73737E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59847E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9305 | likely_pathogenic | 0.9194 | pathogenic | -2.305 | Highly Destabilizing | 0.992 | D | 0.709 | prob.delet. | None | None | None | None | N |
| I/C | 0.9562 | likely_pathogenic | 0.952 | pathogenic | -1.891 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| I/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| I/E | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -1.822 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| I/F | 0.6564 | likely_pathogenic | 0.5958 | pathogenic | -1.414 | Destabilizing | 0.998 | D | 0.8 | deleterious | N | 0.475201948 | None | None | N |
| I/G | 0.9951 | likely_pathogenic | 0.9938 | pathogenic | -2.855 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| I/H | 0.9981 | likely_pathogenic | 0.9973 | pathogenic | -2.274 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| I/K | 0.9968 | likely_pathogenic | 0.9957 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| I/L | 0.1802 | likely_benign | 0.1751 | benign | -0.731 | Destabilizing | 0.889 | D | 0.52 | neutral | N | 0.453013453 | None | None | N |
| I/M | 0.2976 | likely_benign | 0.2702 | benign | -0.873 | Destabilizing | 0.998 | D | 0.742 | deleterious | N | 0.461238749 | None | None | N |
| I/N | 0.9943 | likely_pathogenic | 0.9935 | pathogenic | -1.835 | Destabilizing | 0.999 | D | 0.848 | deleterious | N | 0.488243774 | None | None | N |
| I/P | 0.9975 | likely_pathogenic | 0.997 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| I/Q | 0.9971 | likely_pathogenic | 0.996 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| I/R | 0.9945 | likely_pathogenic | 0.9927 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| I/S | 0.9904 | likely_pathogenic | 0.989 | pathogenic | -2.66 | Highly Destabilizing | 0.998 | D | 0.824 | deleterious | N | 0.487990285 | None | None | N |
| I/T | 0.9788 | likely_pathogenic | 0.9764 | pathogenic | -2.276 | Highly Destabilizing | 0.989 | D | 0.79 | deleterious | N | 0.476215906 | None | None | N |
| I/V | 0.0881 | likely_benign | 0.0859 | benign | -1.234 | Destabilizing | 0.333 | N | 0.325 | neutral | N | 0.471521856 | None | None | N |
| I/W | 0.9962 | likely_pathogenic | 0.9944 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| I/Y | 0.9794 | likely_pathogenic | 0.9711 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.774 | deleterious | 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.