Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19737 | 59434;59435;59436 | chr2:178592910;178592909;178592908 | chr2:179457637;179457636;179457635 |
| N2AB | 18096 | 54511;54512;54513 | chr2:178592910;178592909;178592908 | chr2:179457637;179457636;179457635 |
| N2A | 17169 | 51730;51731;51732 | chr2:178592910;178592909;178592908 | chr2:179457637;179457636;179457635 |
| N2B | 10672 | 32239;32240;32241 | chr2:178592910;178592909;178592908 | chr2:179457637;179457636;179457635 |
| Novex-1 | 10797 | 32614;32615;32616 | chr2:178592910;178592909;178592908 | chr2:179457637;179457636;179457635 |
| Novex-2 | 10864 | 32815;32816;32817 | chr2:178592910;178592909;178592908 | chr2:179457637;179457636;179457635 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs891241532  |
None | 1.0 | N | 0.809 | 0.423 | 0.684933780128 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/G | rs891241532 |
None | 1.0 | N | 0.809 | 0.423 | 0.684933780128 | gnomAD-4.0.0 | 2.5632E-06 | None | None | None | None | N | None | 3.38467E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs748295228 |
-1.639 | 1.0 | N | 0.871 | 0.358 | 0.71030341735 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/Y | rs748295228 |
-1.639 | 1.0 | N | 0.871 | 0.358 | 0.71030341735 | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85938E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8 | likely_pathogenic | 0.8101 | pathogenic | -1.652 | Destabilizing | 0.998 | D | 0.542 | neutral | None | None | None | None | N |
| C/D | 0.9914 | likely_pathogenic | 0.9887 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| C/E | 0.994 | likely_pathogenic | 0.9925 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| C/F | 0.743 | likely_pathogenic | 0.6809 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.461828769 | None | None | N |
| C/G | 0.8491 | likely_pathogenic | 0.8251 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.469524488 | None | None | N |
| C/H | 0.9616 | likely_pathogenic | 0.9466 | pathogenic | -2.291 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| C/I | 0.6076 | likely_pathogenic | 0.5906 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| C/K | 0.9941 | likely_pathogenic | 0.9923 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| C/L | 0.6834 | likely_pathogenic | 0.6492 | pathogenic | -0.771 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| C/M | 0.8614 | likely_pathogenic | 0.8428 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| C/N | 0.9459 | likely_pathogenic | 0.9397 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| C/P | 0.9916 | likely_pathogenic | 0.9895 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| C/Q | 0.9771 | likely_pathogenic | 0.9721 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| C/R | 0.959 | likely_pathogenic | 0.9452 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.891 | deleterious | N | 0.486009411 | None | None | N |
| C/S | 0.7926 | likely_pathogenic | 0.7822 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.501292976 | None | None | N |
| C/T | 0.8445 | likely_pathogenic | 0.8501 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| C/V | 0.5429 | ambiguous | 0.5464 | ambiguous | -1.041 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| C/W | 0.9568 | likely_pathogenic | 0.9385 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.487023369 | None | None | N |
| C/Y | 0.8946 | likely_pathogenic | 0.8593 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.505373432 | 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.