Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18245 | 54958;54959;54960 | chr2:178603954;178603953;178603952 | chr2:179468681;179468680;179468679 |
| N2AB | 16604 | 50035;50036;50037 | chr2:178603954;178603953;178603952 | chr2:179468681;179468680;179468679 |
| N2A | 15677 | 47254;47255;47256 | chr2:178603954;178603953;178603952 | chr2:179468681;179468680;179468679 |
| N2B | 9180 | 27763;27764;27765 | chr2:178603954;178603953;178603952 | chr2:179468681;179468680;179468679 |
| Novex-1 | 9305 | 28138;28139;28140 | chr2:178603954;178603953;178603952 | chr2:179468681;179468680;179468679 |
| Novex-2 | 9372 | 28339;28340;28341 | chr2:178603954;178603953;178603952 | chr2:179468681;179468680;179468679 |
| 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 | rs2054149835  |
None | 1.0 | D | 0.772 | 0.625 | 0.707534925383 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs2054149835 |
None | 1.0 | D | 0.772 | 0.625 | 0.707534925383 | gnomAD-4.0.0 | 6.58085E-06 | None | None | None | None | N | None | 2.41464E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/K | None | None | 0.997 | N | 0.69 | 0.467 | 0.406531046227 | gnomAD-4.0.0 | 2.05397E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79998E-06 | 1.16036E-05 | 0 |
| R/T | None | None | 1.0 | N | 0.777 | 0.52 | 0.772450023565 | gnomAD-4.0.0 | 1.36931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52372E-05 | None | 0 | 0 | 8.99991E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9797 | likely_pathogenic | 0.9653 | pathogenic | -1.81 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| R/C | 0.6767 | likely_pathogenic | 0.5925 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| R/D | 0.9984 | likely_pathogenic | 0.9972 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| R/E | 0.9562 | likely_pathogenic | 0.9367 | pathogenic | -0.743 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/F | 0.989 | likely_pathogenic | 0.9774 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| R/G | 0.9842 | likely_pathogenic | 0.972 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.540652841 | None | None | N |
| R/H | 0.5118 | ambiguous | 0.3838 | ambiguous | -1.95 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| R/I | 0.9615 | likely_pathogenic | 0.932 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.501152649 | None | None | N |
| R/K | 0.5647 | likely_pathogenic | 0.5298 | ambiguous | -1.173 | Destabilizing | 0.997 | D | 0.69 | prob.neutral | N | 0.480753761 | None | None | N |
| R/L | 0.9326 | likely_pathogenic | 0.8834 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| R/M | 0.9638 | likely_pathogenic | 0.9426 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| R/N | 0.9922 | likely_pathogenic | 0.9873 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| R/P | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| R/Q | 0.3611 | ambiguous | 0.2643 | benign | -1.072 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| R/S | 0.9872 | likely_pathogenic | 0.9767 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.510859432 | None | None | N |
| R/T | 0.9768 | likely_pathogenic | 0.9557 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.489565626 | None | None | N |
| R/V | 0.9608 | likely_pathogenic | 0.9328 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| R/W | 0.8619 | likely_pathogenic | 0.7648 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/Y | 0.9694 | likely_pathogenic | 0.9449 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.855 | 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.