Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22454 | 67585;67586;67587 | chr2:178579837;178579836;178579835 | chr2:179444564;179444563;179444562 |
| N2AB | 20813 | 62662;62663;62664 | chr2:178579837;178579836;178579835 | chr2:179444564;179444563;179444562 |
| N2A | 19886 | 59881;59882;59883 | chr2:178579837;178579836;178579835 | chr2:179444564;179444563;179444562 |
| N2B | 13389 | 40390;40391;40392 | chr2:178579837;178579836;178579835 | chr2:179444564;179444563;179444562 |
| Novex-1 | 13514 | 40765;40766;40767 | chr2:178579837;178579836;178579835 | chr2:179444564;179444563;179444562 |
| Novex-2 | 13581 | 40966;40967;40968 | chr2:178579837;178579836;178579835 | chr2:179444564;179444563;179444562 |
| 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/A | rs1357187805  |
-1.173 | 1.0 | N | 0.828 | 0.426 | 0.303123707472 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.01E-06 | 0 |
| P/A | rs1357187805 |
-1.173 | 1.0 | N | 0.828 | 0.426 | 0.303123707472 | gnomAD-4.0.0 | 1.59334E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86112E-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 | 0.1013 | likely_benign | 0.0941 | benign | -1.266 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.490097335 | None | None | N |
| P/C | 0.6239 | likely_pathogenic | 0.5447 | ambiguous | -0.896 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/D | 0.5928 | likely_pathogenic | 0.5874 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/E | 0.3964 | ambiguous | 0.3809 | ambiguous | -1.359 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/F | 0.6797 | likely_pathogenic | 0.6375 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/G | 0.4297 | ambiguous | 0.4099 | ambiguous | -1.489 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/H | 0.3401 | ambiguous | 0.3006 | benign | -0.997 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/I | 0.4395 | ambiguous | 0.3918 | ambiguous | -0.786 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/K | 0.3815 | ambiguous | 0.3683 | ambiguous | -0.899 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/L | 0.2156 | likely_benign | 0.1871 | benign | -0.786 | Destabilizing | 1.0 | D | 0.887 | deleterious | N | 0.503074752 | None | None | N |
| P/M | 0.4366 | ambiguous | 0.3776 | ambiguous | -0.513 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/N | 0.4667 | ambiguous | 0.4349 | ambiguous | -0.634 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/Q | 0.2409 | likely_benign | 0.2169 | benign | -0.955 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.48994402 | None | None | N |
| P/R | 0.2647 | likely_benign | 0.2492 | benign | -0.295 | Destabilizing | 1.0 | D | 0.919 | deleterious | N | 0.485678059 | None | None | N |
| P/S | 0.1977 | likely_benign | 0.1813 | benign | -1.064 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.481296739 | None | None | N |
| P/T | 0.1715 | likely_benign | 0.1586 | benign | -1.044 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.509315722 | None | None | N |
| P/V | 0.2842 | likely_benign | 0.2529 | benign | -0.912 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/W | 0.8352 | likely_pathogenic | 0.813 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/Y | 0.6585 | likely_pathogenic | 0.624 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.933 | 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.