Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25958 | 78097;78098;78099 | chr2:178568260;178568259;178568258 | chr2:179432987;179432986;179432985 |
| N2AB | 24317 | 73174;73175;73176 | chr2:178568260;178568259;178568258 | chr2:179432987;179432986;179432985 |
| N2A | 23390 | 70393;70394;70395 | chr2:178568260;178568259;178568258 | chr2:179432987;179432986;179432985 |
| N2B | 16893 | 50902;50903;50904 | chr2:178568260;178568259;178568258 | chr2:179432987;179432986;179432985 |
| Novex-1 | 17018 | 51277;51278;51279 | chr2:178568260;178568259;178568258 | chr2:179432987;179432986;179432985 |
| Novex-2 | 17085 | 51478;51479;51480 | chr2:178568260;178568259;178568258 | chr2:179432987;179432986;179432985 |
| 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 | rs879174385  |
None | 1.0 | N | 0.816 | 0.528 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs879174385 |
None | 1.0 | N | 0.816 | 0.528 | None | gnomAD-4.0.0 | 6.57808E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47093E-05 | 0 | 0 |
| G/V | None | None | 1.0 | N | 0.859 | 0.541 | 0.89212822634 | gnomAD-4.0.0 | 1.59174E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85936E-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 | 0.4473 | ambiguous | 0.4958 | ambiguous | -0.504 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.491192376 | None | None | N |
| G/C | 0.5696 | likely_pathogenic | 0.6022 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.552635166 | None | None | N |
| G/D | 0.498 | ambiguous | 0.559 | ambiguous | -0.916 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.480632538 | None | None | N |
| G/E | 0.6599 | likely_pathogenic | 0.714 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/F | 0.8764 | likely_pathogenic | 0.8859 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/H | 0.7306 | likely_pathogenic | 0.761 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/I | 0.9207 | likely_pathogenic | 0.9358 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/K | 0.7873 | likely_pathogenic | 0.8227 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/L | 0.8538 | likely_pathogenic | 0.8679 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/M | 0.8523 | likely_pathogenic | 0.8673 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/N | 0.415 | ambiguous | 0.4413 | ambiguous | -0.715 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/P | 0.9926 | likely_pathogenic | 0.9929 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/Q | 0.6626 | likely_pathogenic | 0.7023 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/R | 0.6626 | likely_pathogenic | 0.7205 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.533263463 | None | None | N |
| G/S | 0.2363 | likely_benign | 0.2785 | benign | -0.854 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.504003486 | None | None | N |
| G/T | 0.6438 | likely_pathogenic | 0.6835 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/V | 0.8472 | likely_pathogenic | 0.8804 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.52003428 | None | None | N |
| G/W | 0.8125 | likely_pathogenic | 0.8286 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/Y | 0.777 | likely_pathogenic | 0.7984 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.825 | 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.