Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3239 | 9940;9941;9942 | chr2:178764800;178764799;178764798 | chr2:179629527;179629526;179629525 |
| N2AB | 3239 | 9940;9941;9942 | chr2:178764800;178764799;178764798 | chr2:179629527;179629526;179629525 |
| N2A | 3239 | 9940;9941;9942 | chr2:178764800;178764799;178764798 | chr2:179629527;179629526;179629525 |
| N2B | 3193 | 9802;9803;9804 | chr2:178764800;178764799;178764798 | chr2:179629527;179629526;179629525 |
| Novex-1 | 3193 | 9802;9803;9804 | chr2:178764800;178764799;178764798 | chr2:179629527;179629526;179629525 |
| Novex-2 | 3193 | 9802;9803;9804 | chr2:178764800;178764799;178764798 | chr2:179629527;179629526;179629525 |
| Novex-3 | 3239 | 9940;9941;9942 | chr2:178764800;178764799;178764798 | chr2:179629527;179629526;179629525 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.887 | 0.796 | 0.877189934791 | gnomAD-4.0.0 | 1.59277E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85771E-06 | 0 | 0 |
| P/S | rs1394280644  |
-1.898 | 1.0 | D | 0.885 | 0.825 | 0.726327625402 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1394280644 |
-1.898 | 1.0 | D | 0.885 | 0.825 | 0.726327625402 | gnomAD-4.0.0 | 1.59279E-06 | None | None | None | None | N | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5824 | likely_pathogenic | 0.7161 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.680845997 | None | None | N |
| P/C | 0.9735 | likely_pathogenic | 0.9863 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/D | 0.9987 | likely_pathogenic | 0.9996 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/E | 0.995 | likely_pathogenic | 0.9986 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/F | 0.9977 | likely_pathogenic | 0.9994 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/G | 0.9845 | likely_pathogenic | 0.9925 | pathogenic | -1.903 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/H | 0.9941 | likely_pathogenic | 0.9987 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.759591305 | None | None | N |
| P/I | 0.9553 | likely_pathogenic | 0.9831 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/K | 0.9967 | likely_pathogenic | 0.9992 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/L | 0.8789 | likely_pathogenic | 0.9581 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.670539157 | None | None | N |
| P/M | 0.9842 | likely_pathogenic | 0.9951 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/N | 0.9974 | likely_pathogenic | 0.9993 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/Q | 0.9891 | likely_pathogenic | 0.9975 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/R | 0.9895 | likely_pathogenic | 0.9969 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.760045449 | None | None | N |
| P/S | 0.9395 | likely_pathogenic | 0.9785 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.72577913 | None | None | N |
| P/T | 0.9224 | likely_pathogenic | 0.9742 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.760045449 | None | None | N |
| P/V | 0.882 | likely_pathogenic | 0.9408 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9999 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Y | 0.9987 | likely_pathogenic | 0.9996 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.894 | 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.