Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30058 | 90397;90398;90399 | chr2:178552728;178552727;178552726 | chr2:179417455;179417454;179417453 |
| N2AB | 28417 | 85474;85475;85476 | chr2:178552728;178552727;178552726 | chr2:179417455;179417454;179417453 |
| N2A | 27490 | 82693;82694;82695 | chr2:178552728;178552727;178552726 | chr2:179417455;179417454;179417453 |
| N2B | 20993 | 63202;63203;63204 | chr2:178552728;178552727;178552726 | chr2:179417455;179417454;179417453 |
| Novex-1 | 21118 | 63577;63578;63579 | chr2:178552728;178552727;178552726 | chr2:179417455;179417454;179417453 |
| Novex-2 | 21185 | 63778;63779;63780 | chr2:178552728;178552727;178552726 | chr2:179417455;179417454;179417453 |
| 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 | rs1699916895  |
None | 1.0 | N | 0.825 | 0.56 | 0.385417323374 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | I | None | 0 | 2.28634E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9465 | likely_pathogenic | 0.8976 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.523074657 | None | None | I |
| G/C | 0.9855 | likely_pathogenic | 0.9716 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.53092547 | None | None | I |
| G/D | 0.9953 | likely_pathogenic | 0.9933 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.507564068 | None | None | I |
| G/E | 0.9968 | likely_pathogenic | 0.9952 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/F | 0.998 | likely_pathogenic | 0.9964 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/H | 0.9981 | likely_pathogenic | 0.9967 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/I | 0.9977 | likely_pathogenic | 0.9952 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/K | 0.9971 | likely_pathogenic | 0.9958 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/L | 0.997 | likely_pathogenic | 0.9945 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/M | 0.9984 | likely_pathogenic | 0.997 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/N | 0.9955 | likely_pathogenic | 0.993 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/Q | 0.9966 | likely_pathogenic | 0.9945 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/R | 0.9891 | likely_pathogenic | 0.9834 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.498627299 | None | None | I |
| G/S | 0.9363 | likely_pathogenic | 0.8868 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.517034269 | None | None | I |
| G/T | 0.9928 | likely_pathogenic | 0.9864 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/V | 0.9952 | likely_pathogenic | 0.9903 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.519062185 | None | None | I |
| G/W | 0.9952 | likely_pathogenic | 0.9919 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/Y | 0.9969 | likely_pathogenic | 0.9944 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.798 | 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.