Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23762 | 71509;71510;71511 | chr2:178574848;178574847;178574846 | chr2:179439575;179439574;179439573 |
| N2AB | 22121 | 66586;66587;66588 | chr2:178574848;178574847;178574846 | chr2:179439575;179439574;179439573 |
| N2A | 21194 | 63805;63806;63807 | chr2:178574848;178574847;178574846 | chr2:179439575;179439574;179439573 |
| N2B | 14697 | 44314;44315;44316 | chr2:178574848;178574847;178574846 | chr2:179439575;179439574;179439573 |
| Novex-1 | 14822 | 44689;44690;44691 | chr2:178574848;178574847;178574846 | chr2:179439575;179439574;179439573 |
| Novex-2 | 14889 | 44890;44891;44892 | chr2:178574848;178574847;178574846 | chr2:179439575;179439574;179439573 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | None | None | 1.0 | D | 0.797 | 0.855 | 0.702165677142 | gnomAD-4.0.0 | 1.59271E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -3.841 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/C | 0.9629 | likely_pathogenic | 0.9672 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.644904743 | None | None | N |
| Y/D | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -3.977 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.645308351 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.768 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/F | 0.4219 | ambiguous | 0.4206 | ambiguous | -1.573 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | D | 0.542491566 | None | None | N |
| Y/G | 0.9943 | likely_pathogenic | 0.9943 | pathogenic | -4.227 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| Y/H | 0.9877 | likely_pathogenic | 0.9893 | pathogenic | -2.83 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.644904743 | None | None | N |
| Y/I | 0.985 | likely_pathogenic | 0.9845 | pathogenic | -2.515 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.681 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/L | 0.9629 | likely_pathogenic | 0.9604 | pathogenic | -2.515 | Highly Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| Y/M | 0.9914 | likely_pathogenic | 0.9912 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/N | 0.9887 | likely_pathogenic | 0.9892 | pathogenic | -3.415 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.645308351 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.978 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| Y/Q | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -3.174 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/R | 0.9966 | likely_pathogenic | 0.9965 | pathogenic | -2.364 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| Y/S | 0.9928 | likely_pathogenic | 0.9924 | pathogenic | -3.732 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.645308351 | None | None | N |
| Y/T | 0.9967 | likely_pathogenic | 0.9966 | pathogenic | -3.412 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/V | 0.9707 | likely_pathogenic | 0.9696 | pathogenic | -2.978 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| Y/W | 0.9454 | likely_pathogenic | 0.9433 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.787 | 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.