Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3487 | 10684;10685;10686 | chr2:178757761;178757760;178757759 | chr2:179622488;179622487;179622486 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3441 | 10546;10547;10548 | chr2:178757761;178757760;178757759 | chr2:179622488;179622487;179622486 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs547792470  |
-1.446 | None | None | None | 0.25 | None | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.96117E-04 | None | 0 | 0 | 0 |
| R/G | rs547792470 |
-1.446 | None | None | None | 0.25 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| R/G | rs547792470 |
-1.446 | None | None | None | 0.25 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| R/G | rs547792470 |
-1.446 | None | None | None | 0.25 | None | gnomAD-4.0.0 | 4.95719E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.68606E-05 | 1.60051E-05 |
| R/K | rs531271853 |
-0.885 | None | None | None | 0.17 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/K | rs531271853 |
-0.885 | None | None | None | 0.17 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| R/K | rs531271853 |
-0.885 | None | None | None | 0.17 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| R/K | rs531271853 |
-0.885 | None | None | None | 0.17 | None | gnomAD-4.0.0 | 6.56823E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| R/S | None | None | None | None | None | 0.243 | None | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| R/T | rs531271853 |
None | None | None | None | 0.198 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| R/T | rs531271853 |
None | None | None | None | 0.198 | None | gnomAD-4.0.0 | 6.57333E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.6893 | likely_pathogenic | None | None | -0.994 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/C | 0.3631 | ambiguous | None | None | -0.913 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/D | 0.9389 | likely_pathogenic | None | None | -0.136 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/E | 0.6893 | likely_pathogenic | None | None | -0.017 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/F | 0.8065 | likely_pathogenic | None | None | -0.835 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/G | 0.6882 | likely_pathogenic | None | None | -1.302 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/H | 0.2442 | likely_benign | None | None | -1.501 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/I | 0.4601 | ambiguous | None | None | -0.163 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/K | 0.2001 | likely_benign | None | None | -1.016 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/L | 0.4899 | ambiguous | None | None | -0.163 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/M | 0.52 | ambiguous | None | None | -0.415 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/N | 0.871 | likely_pathogenic | None | None | -0.417 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/P | 0.9675 | likely_pathogenic | None | None | -0.42 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/Q | 0.2007 | likely_benign | None | None | -0.623 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/S | 0.7894 | likely_pathogenic | None | None | -1.254 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/T | 0.5211 | ambiguous | None | None | -0.955 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/V | 0.5621 | ambiguous | None | None | -0.42 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/W | 0.4394 | ambiguous | None | None | -0.442 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/Y | 0.6992 | likely_pathogenic | None | None | -0.168 | Destabilizing | None | None | None | None | 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.