Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17556 | 52891;52892;52893 | chr2:178608217;178608216;178608215 | chr2:179472944;179472943;179472942 |
| N2AB | 15915 | 47968;47969;47970 | chr2:178608217;178608216;178608215 | chr2:179472944;179472943;179472942 |
| N2A | 14988 | 45187;45188;45189 | chr2:178608217;178608216;178608215 | chr2:179472944;179472943;179472942 |
| N2B | 8491 | 25696;25697;25698 | chr2:178608217;178608216;178608215 | chr2:179472944;179472943;179472942 |
| Novex-1 | 8616 | 26071;26072;26073 | chr2:178608217;178608216;178608215 | chr2:179472944;179472943;179472942 |
| Novex-2 | 8683 | 26272;26273;26274 | chr2:178608217;178608216;178608215 | chr2:179472944;179472943;179472942 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs750715335  |
-1.183 | 0.999 | D | 0.899 | 0.572 | 0.485348376517 | gnomAD-2.1.1 | 1.25E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.46E-05 | None | 0 | 1.83E-05 | 0 |
| S/N | rs750715335 |
-1.183 | 0.999 | D | 0.899 | 0.572 | 0.485348376517 | gnomAD-4.0.0 | 1.03277E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.26482E-05 | 1.17791E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.801 | likely_pathogenic | 0.7905 | pathogenic | -0.747 | Destabilizing | 0.998 | D | 0.849 | deleterious | None | None | None | None | N |
| S/C | 0.7841 | likely_pathogenic | 0.8274 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.566234694 | None | None | N |
| S/D | 0.9978 | likely_pathogenic | 0.9963 | pathogenic | -1.212 | Destabilizing | 0.999 | D | 0.896 | deleterious | None | None | None | None | N |
| S/E | 0.9987 | likely_pathogenic | 0.9978 | pathogenic | -1.063 | Destabilizing | 0.999 | D | 0.895 | deleterious | None | None | None | None | N |
| S/F | 0.9966 | likely_pathogenic | 0.995 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| S/G | 0.7535 | likely_pathogenic | 0.8042 | pathogenic | -1.122 | Destabilizing | 0.999 | D | 0.889 | deleterious | D | 0.525213565 | None | None | N |
| S/H | 0.9938 | likely_pathogenic | 0.9911 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| S/I | 0.9886 | likely_pathogenic | 0.985 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.899 | deleterious | D | 0.565727715 | None | None | N |
| S/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.577 | Destabilizing | 0.999 | D | 0.891 | deleterious | None | None | None | None | N |
| S/L | 0.9617 | likely_pathogenic | 0.954 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| S/M | 0.9899 | likely_pathogenic | 0.9873 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| S/N | 0.9884 | likely_pathogenic | 0.9836 | pathogenic | -1.02 | Destabilizing | 0.999 | D | 0.899 | deleterious | D | 0.565474226 | None | None | N |
| S/P | 0.9939 | likely_pathogenic | 0.9902 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| S/Q | 0.997 | likely_pathogenic | 0.9954 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| S/R | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.564713757 | None | None | N |
| S/T | 0.8004 | likely_pathogenic | 0.7545 | pathogenic | -0.759 | Destabilizing | 0.999 | D | 0.895 | deleterious | D | 0.526895405 | None | None | N |
| S/V | 0.9862 | likely_pathogenic | 0.9816 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| S/W | 0.9962 | likely_pathogenic | 0.9941 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| S/Y | 0.9957 | likely_pathogenic | 0.9935 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.915 | 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.