Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17345 | 52258;52259;52260 | chr2:178609277;178609276;178609275 | chr2:179474004;179474003;179474002 |
| N2AB | 15704 | 47335;47336;47337 | chr2:178609277;178609276;178609275 | chr2:179474004;179474003;179474002 |
| N2A | 14777 | 44554;44555;44556 | chr2:178609277;178609276;178609275 | chr2:179474004;179474003;179474002 |
| N2B | 8280 | 25063;25064;25065 | chr2:178609277;178609276;178609275 | chr2:179474004;179474003;179474002 |
| Novex-1 | 8405 | 25438;25439;25440 | chr2:178609277;178609276;178609275 | chr2:179474004;179474003;179474002 |
| Novex-2 | 8472 | 25639;25640;25641 | chr2:178609277;178609276;178609275 | chr2:179474004;179474003;179474002 |
| 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/V | None | None | 1.0 | D | 0.867 | 0.817 | 0.774044466036 | gnomAD-4.0.0 | 6.99481E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.11361E-07 | 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 | 0.6078 | likely_pathogenic | 0.681 | pathogenic | -0.79 | Destabilizing | 0.949 | D | 0.65 | neutral | D | 0.554271242 | None | None | N |
| G/C | 0.8478 | likely_pathogenic | 0.8894 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.610494372 | None | None | N |
| G/D | 0.9426 | likely_pathogenic | 0.9535 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.594071402 | None | None | N |
| G/E | 0.9747 | likely_pathogenic | 0.9812 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/F | 0.9881 | likely_pathogenic | 0.9902 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/H | 0.9813 | likely_pathogenic | 0.9864 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.9884 | likely_pathogenic | 0.99 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/K | 0.9853 | likely_pathogenic | 0.9885 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/L | 0.9799 | likely_pathogenic | 0.9833 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/M | 0.9883 | likely_pathogenic | 0.9907 | pathogenic | -0.102 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/N | 0.954 | likely_pathogenic | 0.966 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/Q | 0.9651 | likely_pathogenic | 0.9728 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/R | 0.9624 | likely_pathogenic | 0.9694 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.610292568 | None | None | N |
| G/S | 0.5438 | ambiguous | 0.6203 | pathogenic | -1.266 | Destabilizing | 0.999 | D | 0.813 | deleterious | D | 0.609888959 | None | None | N |
| G/T | 0.9297 | likely_pathogenic | 0.9446 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/V | 0.9732 | likely_pathogenic | 0.9775 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.610494372 | None | None | N |
| G/W | 0.9888 | likely_pathogenic | 0.991 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/Y | 0.9864 | likely_pathogenic | 0.9894 | pathogenic | -1.1 | 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.