Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6667 | 20224;20225;20226 | chr2:178727366;178727365;178727364 | chr2:179592093;179592092;179592091 |
| N2AB | 6350 | 19273;19274;19275 | chr2:178727366;178727365;178727364 | chr2:179592093;179592092;179592091 |
| N2A | 5423 | 16492;16493;16494 | chr2:178727366;178727365;178727364 | chr2:179592093;179592092;179592091 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs2079519176  |
None | 1.0 | D | 0.902 | 0.657 | 0.91084523756 | gnomAD-4.0.0 | 6.94337E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53872E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | None | None | 1.0 | D | 0.892 | 0.651 | 0.817946318196 | gnomAD-4.0.0 | 6.94337E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.07711E-07 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.905 | 0.661 | 0.863231483024 | gnomAD-4.0.0 | 6.94337E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.07711E-07 | 0 | 0 |
| P/S | rs771421787 |
-1.733 | 1.0 | D | 0.9 | 0.668 | 0.669504143626 | gnomAD-2.1.1 | 8.68E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.65E-05 | None | 0 | 0 | 0 |
| P/T | rs771421787 |
None | 1.0 | D | 0.901 | 0.695 | 0.825518248999 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs771421787 |
None | 1.0 | D | 0.901 | 0.695 | 0.825518248999 | gnomAD-4.0.0 | 6.57419E-06 | None | None | None | None | N | None | 0 | 6.55652E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.4784 | ambiguous | 0.6184 | pathogenic | -1.714 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.586367095 | None | None | N |
| P/C | 0.9745 | likely_pathogenic | 0.9785 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/E | 0.9956 | likely_pathogenic | 0.9944 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/F | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/G | 0.9748 | likely_pathogenic | 0.9788 | pathogenic | -2.039 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/H | 0.9963 | likely_pathogenic | 0.9952 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/I | 0.9583 | likely_pathogenic | 0.9546 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/K | 0.9976 | likely_pathogenic | 0.9967 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/L | 0.8709 | likely_pathogenic | 0.8711 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.618809426 | None | None | N |
| P/M | 0.9833 | likely_pathogenic | 0.9833 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/N | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/Q | 0.9894 | likely_pathogenic | 0.987 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.61901123 | None | None | N |
| P/R | 0.991 | likely_pathogenic | 0.9882 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.635262756 | None | None | N |
| P/S | 0.9387 | likely_pathogenic | 0.9501 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.609321036 | None | None | N |
| P/T | 0.9256 | likely_pathogenic | 0.9325 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.635060951 | None | None | N |
| P/V | 0.8584 | likely_pathogenic | 0.8659 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.905 | 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.