Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16202 | 48829;48830;48831 | chr2:178615341;178615340;178615339 | chr2:179480068;179480067;179480066 |
| N2AB | 14561 | 43906;43907;43908 | chr2:178615341;178615340;178615339 | chr2:179480068;179480067;179480066 |
| N2A | 13634 | 41125;41126;41127 | chr2:178615341;178615340;178615339 | chr2:179480068;179480067;179480066 |
| N2B | 7137 | 21634;21635;21636 | chr2:178615341;178615340;178615339 | chr2:179480068;179480067;179480066 |
| Novex-1 | 7262 | 22009;22010;22011 | chr2:178615341;178615340;178615339 | chr2:179480068;179480067;179480066 |
| Novex-2 | 7329 | 22210;22211;22212 | chr2:178615341;178615340;178615339 | chr2:179480068;179480067;179480066 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.781 | 0.697 | 0.757285910035 | gnomAD-4.0.0 | 1.59425E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86385E-06 | 0 | 0 |
| W/S | None | None | 1.0 | D | 0.787 | 0.604 | 0.881798923059 | gnomAD-4.0.0 | 1.59412E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86379E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9953 | likely_pathogenic | 0.9916 | pathogenic | -2.851 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/C | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.670919859 | None | None | N |
| W/D | 0.9982 | likely_pathogenic | 0.9968 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| W/E | 0.9987 | likely_pathogenic | 0.9975 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| W/F | 0.5624 | ambiguous | 0.5779 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| W/G | 0.9847 | likely_pathogenic | 0.9726 | pathogenic | -3.048 | Highly Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.700973119 | None | None | N |
| W/H | 0.9941 | likely_pathogenic | 0.9916 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| W/I | 0.9929 | likely_pathogenic | 0.9895 | pathogenic | -2.15 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| W/L | 0.9852 | likely_pathogenic | 0.9789 | pathogenic | -2.15 | Highly Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.67079959 | None | None | N |
| W/M | 0.9929 | likely_pathogenic | 0.9901 | pathogenic | -1.536 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| W/N | 0.998 | likely_pathogenic | 0.9968 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| W/P | 0.9959 | likely_pathogenic | 0.992 | pathogenic | -2.398 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| W/R | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.712529454 | None | None | N |
| W/S | 0.9944 | likely_pathogenic | 0.9901 | pathogenic | -2.088 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.725674448 | None | None | N |
| W/T | 0.9957 | likely_pathogenic | 0.992 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| W/V | 0.992 | likely_pathogenic | 0.9881 | pathogenic | -2.398 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| W/Y | 0.8006 | likely_pathogenic | 0.808 | pathogenic | -1.639 | Destabilizing | 1.0 | D | 0.616 | neutral | 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.