Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22034 | 66325;66326;66327 | chr2:178582356;178582355;178582354 | chr2:179447083;179447082;179447081 |
| N2AB | 20393 | 61402;61403;61404 | chr2:178582356;178582355;178582354 | chr2:179447083;179447082;179447081 |
| N2A | 19466 | 58621;58622;58623 | chr2:178582356;178582355;178582354 | chr2:179447083;179447082;179447081 |
| N2B | 12969 | 39130;39131;39132 | chr2:178582356;178582355;178582354 | chr2:179447083;179447082;179447081 |
| Novex-1 | 13094 | 39505;39506;39507 | chr2:178582356;178582355;178582354 | chr2:179447083;179447082;179447081 |
| Novex-2 | 13161 | 39706;39707;39708 | chr2:178582356;178582355;178582354 | chr2:179447083;179447082;179447081 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs1347058381  |
-1.157 | 1.0 | D | 0.775 | 0.74 | 0.501247319706 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/H | rs1347058381 |
-1.157 | 1.0 | D | 0.775 | 0.74 | 0.501247319706 | 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 |
| N/H | rs1347058381 |
-1.157 | 1.0 | D | 0.775 | 0.74 | 0.501247319706 | gnomAD-4.0.0 | 6.57575E-06 | None | None | None | None | N | None | 2.41313E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/I | rs746824795 |
-0.065 | 1.0 | D | 0.789 | 0.748 | 0.890112266902 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| N/S | None | None | 0.999 | N | 0.599 | 0.664 | 0.360163838653 | gnomAD-4.0.0 | 2.05802E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01214E-07 | 1.16689E-05 | 1.66163E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/C | 0.9951 | likely_pathogenic | 0.9949 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/D | 0.9968 | likely_pathogenic | 0.9964 | pathogenic | -2.33 | Highly Destabilizing | 0.999 | D | 0.617 | neutral | D | 0.539994505 | None | None | N |
| N/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.133 | Highly Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/F | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| N/G | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -1.477 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| N/H | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.559112718 | None | None | N |
| N/I | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.559619697 | None | None | N |
| N/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.558352249 | None | None | N |
| N/L | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| N/M | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| N/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| N/R | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/S | 0.9809 | likely_pathogenic | 0.9805 | pathogenic | -1.331 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.512113653 | None | None | N |
| N/T | 0.9888 | likely_pathogenic | 0.9906 | pathogenic | -0.981 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | N | 0.505918227 | None | None | N |
| N/V | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/W | 1.0 | likely_pathogenic | 1.0 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/Y | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.559366208 | 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.