Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21938 | 66037;66038;66039 | chr2:178582991;178582990;178582989 | chr2:179447718;179447717;179447716 |
| N2AB | 20297 | 61114;61115;61116 | chr2:178582991;178582990;178582989 | chr2:179447718;179447717;179447716 |
| N2A | 19370 | 58333;58334;58335 | chr2:178582991;178582990;178582989 | chr2:179447718;179447717;179447716 |
| N2B | 12873 | 38842;38843;38844 | chr2:178582991;178582990;178582989 | chr2:179447718;179447717;179447716 |
| Novex-1 | 12998 | 39217;39218;39219 | chr2:178582991;178582990;178582989 | chr2:179447718;179447717;179447716 |
| Novex-2 | 13065 | 39418;39419;39420 | chr2:178582991;178582990;178582989 | chr2:179447718;179447717;179447716 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs1229229420  |
-0.075 | 1.0 | D | 0.607 | 0.55 | 0.61396450125 | gnomAD-2.1.1 | 4.38E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.38E-06 | 0 |
| A/V | rs1229229420 |
-0.075 | 1.0 | D | 0.607 | 0.55 | 0.61396450125 | gnomAD-4.0.0 | 3.55859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.70183E-06 | 0 | 1.72891E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7786 | likely_pathogenic | 0.7984 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/D | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.627392389 | None | None | N |
| A/E | 0.9965 | likely_pathogenic | 0.9969 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/F | 0.987 | likely_pathogenic | 0.9867 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/G | 0.6074 | likely_pathogenic | 0.5906 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.548 | neutral | D | 0.573358746 | None | None | N |
| A/H | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/I | 0.7603 | likely_pathogenic | 0.8363 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/K | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/L | 0.6192 | likely_pathogenic | 0.6888 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| A/M | 0.8508 | likely_pathogenic | 0.8765 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/N | 0.9971 | likely_pathogenic | 0.9977 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/P | 0.9976 | likely_pathogenic | 0.9976 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.627190585 | None | None | N |
| A/Q | 0.9939 | likely_pathogenic | 0.9942 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/R | 0.9958 | likely_pathogenic | 0.9962 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/S | 0.6064 | likely_pathogenic | 0.6214 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.553 | neutral | D | 0.601248865 | None | None | N |
| A/T | 0.5681 | likely_pathogenic | 0.6464 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.589206663 | None | None | N |
| A/V | 0.3634 | ambiguous | 0.4592 | ambiguous | -0.586 | Destabilizing | 1.0 | D | 0.607 | neutral | D | 0.541108598 | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/Y | 0.9971 | likely_pathogenic | 0.9968 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.868 | 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.