Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20696 | 62311;62312;62313 | chr2:178589639;178589638;178589637 | chr2:179454366;179454365;179454364 |
| N2AB | 19055 | 57388;57389;57390 | chr2:178589639;178589638;178589637 | chr2:179454366;179454365;179454364 |
| N2A | 18128 | 54607;54608;54609 | chr2:178589639;178589638;178589637 | chr2:179454366;179454365;179454364 |
| N2B | 11631 | 35116;35117;35118 | chr2:178589639;178589638;178589637 | chr2:179454366;179454365;179454364 |
| Novex-1 | 11756 | 35491;35492;35493 | chr2:178589639;178589638;178589637 | chr2:179454366;179454365;179454364 |
| Novex-2 | 11823 | 35692;35693;35694 | chr2:178589639;178589638;178589637 | chr2:179454366;179454365;179454364 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs763791044  |
-0.64 | 1.0 | N | 0.847 | 0.517 | 0.389439708392 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.23115E-04 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs763791044 |
-0.64 | 1.0 | N | 0.847 | 0.517 | 0.389439708392 | gnomAD-4.0.0 | 8.89658E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.00862E-04 | None | 0 | 0 | 8.09654E-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 | 0.9841 | likely_pathogenic | 0.9691 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.524516234 | None | None | I |
| G/C | 0.9971 | likely_pathogenic | 0.992 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.525783682 | None | None | I |
| G/D | 0.9992 | likely_pathogenic | 0.9979 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.501043155 | None | None | I |
| G/E | 0.9994 | likely_pathogenic | 0.9987 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/F | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/H | 0.9997 | likely_pathogenic | 0.999 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/I | 0.9996 | likely_pathogenic | 0.999 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/K | 0.9994 | likely_pathogenic | 0.9984 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/L | 0.9993 | likely_pathogenic | 0.9986 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/M | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/N | 0.9992 | likely_pathogenic | 0.9977 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/Q | 0.9995 | likely_pathogenic | 0.9986 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/R | 0.9977 | likely_pathogenic | 0.9942 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.501296644 | None | None | I |
| G/S | 0.9912 | likely_pathogenic | 0.9796 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.500789665 | None | None | I |
| G/T | 0.9986 | likely_pathogenic | 0.9972 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9989 | likely_pathogenic | 0.9978 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.514173887 | None | None | I |
| G/W | 0.9992 | likely_pathogenic | 0.9979 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/Y | 0.9996 | likely_pathogenic | 0.9989 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.789 | 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.