Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17175 | 51748;51749;51750 | chr2:178609900;178609899;178609898 | chr2:179474627;179474626;179474625 |
| N2AB | 15534 | 46825;46826;46827 | chr2:178609900;178609899;178609898 | chr2:179474627;179474626;179474625 |
| N2A | 14607 | 44044;44045;44046 | chr2:178609900;178609899;178609898 | chr2:179474627;179474626;179474625 |
| N2B | 8110 | 24553;24554;24555 | chr2:178609900;178609899;178609898 | chr2:179474627;179474626;179474625 |
| Novex-1 | 8235 | 24928;24929;24930 | chr2:178609900;178609899;178609898 | chr2:179474627;179474626;179474625 |
| Novex-2 | 8302 | 25129;25130;25131 | chr2:178609900;178609899;178609898 | chr2:179474627;179474626;179474625 |
| 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/E | rs961480775  |
None | 1.0 | N | 0.887 | 0.642 | 0.577534042849 | gnomAD-4.0.0 | 2.05348E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69944E-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 | 0.98 | likely_pathogenic | 0.9688 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.515464106 | None | None | I |
| G/C | 0.996 | likely_pathogenic | 0.9929 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/D | 0.9991 | likely_pathogenic | 0.9982 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/E | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.887 | deleterious | N | 0.514957127 | None | None | I |
| G/F | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/H | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/I | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/K | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/L | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/M | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/N | 0.9988 | likely_pathogenic | 0.9977 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/Q | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| G/R | 0.9973 | likely_pathogenic | 0.995 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.884 | deleterious | N | 0.496029952 | None | None | I |
| G/S | 0.9822 | likely_pathogenic | 0.9716 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/T | 0.9977 | likely_pathogenic | 0.9965 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/V | 0.9989 | likely_pathogenic | 0.9981 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.519605163 | None | None | I |
| G/W | 0.9987 | likely_pathogenic | 0.9978 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/Y | 0.9993 | likely_pathogenic | 0.9986 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.825 | 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.