Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16079 | 48460;48461;48462 | chr2:178616556;178616555;178616554 | chr2:179481283;179481282;179481281 |
| N2AB | 14438 | 43537;43538;43539 | chr2:178616556;178616555;178616554 | chr2:179481283;179481282;179481281 |
| N2A | 13511 | 40756;40757;40758 | chr2:178616556;178616555;178616554 | chr2:179481283;179481282;179481281 |
| N2B | 7014 | 21265;21266;21267 | chr2:178616556;178616555;178616554 | chr2:179481283;179481282;179481281 |
| Novex-1 | 7139 | 21640;21641;21642 | chr2:178616556;178616555;178616554 | chr2:179481283;179481282;179481281 |
| Novex-2 | 7206 | 21841;21842;21843 | chr2:178616556;178616555;178616554 | chr2:179481283;179481282;179481281 |
| 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/H | None | None | 1.0 | D | 0.859 | 0.638 | 0.610832418033 | gnomAD-4.0.0 | 6.84724E-07 | None | None | None | None | N | None | 0 | 2.23894E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.875 | 0.662 | 0.600262279454 | gnomAD-4.0.0 | 6.84724E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00009E-07 | 0 | 0 |
| P/S | rs760271431  |
-2.296 | 1.0 | D | 0.825 | 0.51 | 0.472741223727 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| P/S | rs760271431 |
-2.296 | 1.0 | D | 0.825 | 0.51 | 0.472741223727 | gnomAD-4.0.0 | 4.78197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.59102E-06 | 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 | 0.4579 | ambiguous | 0.622 | pathogenic | -2.008 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.647838687 | None | None | N |
| P/C | 0.8951 | likely_pathogenic | 0.946 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/D | 0.9945 | likely_pathogenic | 0.997 | pathogenic | -2.559 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/E | 0.9866 | likely_pathogenic | 0.9931 | pathogenic | -2.491 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/F | 0.9968 | likely_pathogenic | 0.9985 | pathogenic | -1.536 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/G | 0.931 | likely_pathogenic | 0.9592 | pathogenic | -2.413 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/H | 0.98 | likely_pathogenic | 0.99 | pathogenic | -2.126 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.762162545 | None | None | N |
| P/I | 0.9722 | likely_pathogenic | 0.988 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/K | 0.9945 | likely_pathogenic | 0.997 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/L | 0.9009 | likely_pathogenic | 0.9497 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.790896391 | None | None | N |
| P/M | 0.9719 | likely_pathogenic | 0.987 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/N | 0.9911 | likely_pathogenic | 0.9955 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/Q | 0.9718 | likely_pathogenic | 0.9858 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/R | 0.981 | likely_pathogenic | 0.9883 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.741563383 | None | None | N |
| P/S | 0.794 | likely_pathogenic | 0.8834 | pathogenic | -2.187 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.61600223 | None | None | N |
| P/T | 0.8038 | likely_pathogenic | 0.8927 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.740466109 | None | None | N |
| P/V | 0.8973 | likely_pathogenic | 0.9506 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/W | 0.9984 | likely_pathogenic | 0.9992 | pathogenic | -1.917 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/Y | 0.9972 | likely_pathogenic | 0.9987 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.875 | 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.