Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26260 | 79003;79004;79005 | chr2:178567354;178567353;178567352 | chr2:179432081;179432080;179432079 |
| N2AB | 24619 | 74080;74081;74082 | chr2:178567354;178567353;178567352 | chr2:179432081;179432080;179432079 |
| N2A | 23692 | 71299;71300;71301 | chr2:178567354;178567353;178567352 | chr2:179432081;179432080;179432079 |
| N2B | 17195 | 51808;51809;51810 | chr2:178567354;178567353;178567352 | chr2:179432081;179432080;179432079 |
| Novex-1 | 17320 | 52183;52184;52185 | chr2:178567354;178567353;178567352 | chr2:179432081;179432080;179432079 |
| Novex-2 | 17387 | 52384;52385;52386 | chr2:178567354;178567353;178567352 | chr2:179432081;179432080;179432079 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 1.0 | D | 0.813 | 0.821 | 0.657207152337 | gnomAD-4.0.0 | 1.63483E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.5152E-05 | 0 |
| D/V | rs1221038194  |
None | 1.0 | D | 0.874 | 0.92 | 0.916336800185 | gnomAD-4.0.0 | 1.38395E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80816E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9868 | likely_pathogenic | 0.9797 | pathogenic | 0.776 | Stabilizing | 1.0 | D | 0.853 | deleterious | D | 0.634585904 | None | None | N |
| D/C | 0.9919 | likely_pathogenic | 0.9861 | pathogenic | 0.644 | Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| D/E | 0.9549 | likely_pathogenic | 0.9244 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.620373858 | None | None | N |
| D/F | 0.9958 | likely_pathogenic | 0.9934 | pathogenic | 1.544 | Stabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| D/G | 0.9859 | likely_pathogenic | 0.9808 | pathogenic | 0.319 | Stabilizing | 1.0 | D | 0.808 | deleterious | D | 0.66682643 | None | None | N |
| D/H | 0.9394 | likely_pathogenic | 0.8958 | pathogenic | 1.365 | Stabilizing | 1.0 | D | 0.863 | deleterious | D | 0.588092253 | None | None | N |
| D/I | 0.997 | likely_pathogenic | 0.9952 | pathogenic | 1.996 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| D/K | 0.9961 | likely_pathogenic | 0.9941 | pathogenic | 0.861 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/L | 0.9938 | likely_pathogenic | 0.9911 | pathogenic | 1.996 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| D/M | 0.9981 | likely_pathogenic | 0.9968 | pathogenic | 2.184 | Highly Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| D/N | 0.8739 | likely_pathogenic | 0.8158 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.614166133 | None | None | N |
| D/P | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | 1.62 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/Q | 0.9895 | likely_pathogenic | 0.9819 | pathogenic | 0.225 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| D/R | 0.9949 | likely_pathogenic | 0.9929 | pathogenic | 0.863 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| D/S | 0.9451 | likely_pathogenic | 0.9192 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/T | 0.99 | likely_pathogenic | 0.9854 | pathogenic | 0.098 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/V | 0.992 | likely_pathogenic | 0.9882 | pathogenic | 1.62 | Stabilizing | 1.0 | D | 0.874 | deleterious | D | 0.651210678 | None | None | N |
| D/W | 0.9982 | likely_pathogenic | 0.997 | pathogenic | 1.626 | Stabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/Y | 0.9741 | likely_pathogenic | 0.96 | pathogenic | 1.88 | Stabilizing | 1.0 | D | 0.893 | deleterious | D | 0.651008873 | 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.