Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8496 | 25711;25712;25713 | chr2:178717248;178717247;178717246 | chr2:179581975;179581974;179581973 |
| N2AB | 8179 | 24760;24761;24762 | chr2:178717248;178717247;178717246 | chr2:179581975;179581974;179581973 |
| N2A | 7252 | 21979;21980;21981 | chr2:178717248;178717247;178717246 | chr2:179581975;179581974;179581973 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1220776486  |
-1.248 | 0.694 | N | 0.411 | 0.385 | 0.268211541103 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| I/M | rs1220776486 |
-1.248 | 0.694 | N | 0.411 | 0.385 | 0.268211541103 | gnomAD-4.0.0 | 4.77479E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57706E-06 | 0 | 0 |
| I/T | rs781171748 |
-3.252 | 0.992 | D | 0.637 | 0.635 | 0.742780796866 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs781171748 |
-3.252 | 0.992 | D | 0.637 | 0.635 | 0.742780796866 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.773E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | None | None | 0.423 | D | 0.409 | 0.243 | 0.423597194605 | gnomAD-4.0.0 | 1.36853E-06 | None | None | None | None | N | None | 5.97907E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9789 | likely_pathogenic | 0.9744 | pathogenic | -2.334 | Highly Destabilizing | 0.996 | D | 0.587 | neutral | None | None | None | None | N |
| I/C | 0.9896 | likely_pathogenic | 0.9897 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| I/D | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| I/E | 0.9968 | likely_pathogenic | 0.995 | pathogenic | -2.284 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| I/F | 0.7526 | likely_pathogenic | 0.7088 | pathogenic | -1.44 | Destabilizing | 0.997 | D | 0.599 | neutral | N | 0.499005007 | None | None | N |
| I/G | 0.9952 | likely_pathogenic | 0.9931 | pathogenic | -2.838 | Highly Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| I/H | 0.9952 | likely_pathogenic | 0.9936 | pathogenic | -2.167 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| I/K | 0.9911 | likely_pathogenic | 0.9876 | pathogenic | -1.831 | Destabilizing | 0.983 | D | 0.744 | deleterious | None | None | None | None | N |
| I/L | 0.2905 | likely_benign | 0.232 | benign | -0.898 | Destabilizing | 0.008 | N | 0.151 | neutral | N | 0.454054469 | None | None | N |
| I/M | 0.3953 | ambiguous | 0.3341 | benign | -0.791 | Destabilizing | 0.694 | D | 0.411 | neutral | N | 0.499080686 | None | None | N |
| I/N | 0.9839 | likely_pathogenic | 0.9767 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.538860821 | None | None | N |
| I/P | 0.9938 | likely_pathogenic | 0.991 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| I/Q | 0.9924 | likely_pathogenic | 0.9896 | pathogenic | -1.99 | Destabilizing | 0.999 | D | 0.778 | deleterious | None | None | None | None | N |
| I/R | 0.9885 | likely_pathogenic | 0.9846 | pathogenic | -1.527 | Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
| I/S | 0.9886 | likely_pathogenic | 0.9852 | pathogenic | -2.746 | Highly Destabilizing | 0.999 | D | 0.693 | prob.neutral | D | 0.524364191 | None | None | N |
| I/T | 0.98 | likely_pathogenic | 0.9782 | pathogenic | -2.395 | Highly Destabilizing | 0.992 | D | 0.637 | neutral | D | 0.530792518 | None | None | N |
| I/V | 0.2335 | likely_benign | 0.2832 | benign | -1.356 | Destabilizing | 0.423 | N | 0.409 | neutral | D | 0.528941804 | None | None | N |
| I/W | 0.9914 | likely_pathogenic | 0.9891 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| I/Y | 0.9724 | likely_pathogenic | 0.9643 | pathogenic | -1.437 | Destabilizing | 0.996 | D | 0.707 | prob.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.