Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32481 | 97666;97667;97668 | chr2:178542315;178542314;178542313 | chr2:179407042;179407041;179407040 |
| N2AB | 30840 | 92743;92744;92745 | chr2:178542315;178542314;178542313 | chr2:179407042;179407041;179407040 |
| N2A | 29913 | 89962;89963;89964 | chr2:178542315;178542314;178542313 | chr2:179407042;179407041;179407040 |
| N2B | 23416 | 70471;70472;70473 | chr2:178542315;178542314;178542313 | chr2:179407042;179407041;179407040 |
| Novex-1 | 23541 | 70846;70847;70848 | chr2:178542315;178542314;178542313 | chr2:179407042;179407041;179407040 |
| Novex-2 | 23608 | 71047;71048;71049 | chr2:178542315;178542314;178542313 | chr2:179407042;179407041;179407040 |
| 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/E | rs201364164  |
-0.4 | 1.0 | D | 0.88 | 0.593 | 0.756934221054 | gnomAD-2.1.1 | 8.93E-05 | None | None | None | None | I | None | 0 | 5.83E-05 | None | 0 | 0 | None | 3.9604E-04 | None | 0 | 3.59E-05 | 6.6778E-04 |
| G/E | rs201364164 |
-0.4 | 1.0 | D | 0.88 | 0.593 | 0.756934221054 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 4.1425E-04 | 0 |
| G/E | rs201364164 |
-0.4 | 1.0 | D | 0.88 | 0.593 | 0.756934221054 | gnomAD-4.0.0 | 7.06922E-05 | None | None | None | None | I | None | 1.33344E-05 | 5.00868E-05 | None | 6.76361E-05 | 0 | None | 0 | 2.14663E-03 | 3.73101E-05 | 4.07202E-04 | 2.24215E-04 |
| G/R | rs111616037 |
-0.365 | 1.0 | D | 0.894 | 0.6 | 0.835524966656 | gnomAD-2.1.1 | 2.84E-05 | None | None | None | None | I | None | 1.31527E-04 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 3.59E-05 | 0 |
| G/R | rs111616037 |
-0.365 | 1.0 | D | 0.894 | 0.6 | 0.835524966656 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs111616037 |
-0.365 | 1.0 | D | 0.894 | 0.6 | 0.835524966656 | gnomAD-4.0.0 | 5.58138E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78357E-06 | 1.10057E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9596 | likely_pathogenic | 0.9345 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | D | 0.568635826 | None | None | I |
| G/C | 0.9808 | likely_pathogenic | 0.9672 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/D | 0.9935 | likely_pathogenic | 0.9885 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/E | 0.9963 | likely_pathogenic | 0.9934 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.568128847 | None | None | I |
| G/F | 0.9976 | likely_pathogenic | 0.9961 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/H | 0.9969 | likely_pathogenic | 0.9943 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/I | 0.9977 | likely_pathogenic | 0.9959 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/K | 0.9979 | likely_pathogenic | 0.9966 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| G/L | 0.9956 | likely_pathogenic | 0.993 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/M | 0.9985 | likely_pathogenic | 0.9972 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/N | 0.9941 | likely_pathogenic | 0.9903 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/Q | 0.9943 | likely_pathogenic | 0.9904 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/R | 0.9903 | likely_pathogenic | 0.9839 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.568128847 | None | None | I |
| G/S | 0.9186 | likely_pathogenic | 0.8632 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/T | 0.9903 | likely_pathogenic | 0.9832 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/V | 0.995 | likely_pathogenic | 0.9913 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.569396294 | None | None | I |
| G/W | 0.9951 | likely_pathogenic | 0.991 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.569649784 | None | None | I |
| G/Y | 0.9966 | likely_pathogenic | 0.9942 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.862 | 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.