Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9590 | 28993;28994;28995 | chr2:178707799;178707798;178707797 | chr2:179572526;179572525;179572524 |
| N2AB | 9273 | 28042;28043;28044 | chr2:178707799;178707798;178707797 | chr2:179572526;179572525;179572524 |
| N2A | 8346 | 25261;25262;25263 | chr2:178707799;178707798;178707797 | chr2:179572526;179572525;179572524 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs867410935  |
-0.706 | 1.0 | None | 0.875 | 0.609 | 0.618865024872 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | N | None | 0 | 3.06E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs867410935 |
-0.706 | 1.0 | None | 0.875 | 0.609 | 0.618865024872 | gnomAD-4.0.0 | 1.6461E-06 | None | None | None | None | N | None | 0 | 2.37903E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4184 | ambiguous | 0.407 | ambiguous | -1.817 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/C | 0.9662 | likely_pathogenic | 0.9682 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/E | 0.9936 | likely_pathogenic | 0.993 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/F | 0.9973 | likely_pathogenic | 0.9961 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/G | 0.9731 | likely_pathogenic | 0.9695 | pathogenic | -2.186 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/H | 0.9938 | likely_pathogenic | 0.9922 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/I | 0.9408 | likely_pathogenic | 0.9381 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/K | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/L | 0.8462 | likely_pathogenic | 0.8234 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/M | 0.9777 | likely_pathogenic | 0.9747 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/N | 0.9972 | likely_pathogenic | 0.9971 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/Q | 0.9863 | likely_pathogenic | 0.985 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/R | 0.9849 | likely_pathogenic | 0.9837 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/S | 0.9312 | likely_pathogenic | 0.9271 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/T | 0.9002 | likely_pathogenic | 0.9019 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/V | 0.8341 | likely_pathogenic | 0.8304 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/W | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/Y | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.873 | 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.