Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9397 | 28414;28415;28416 | chr2:178710908;178710907;178710906 | chr2:179575635;179575634;179575633 |
| N2AB | 9080 | 27463;27464;27465 | chr2:178710908;178710907;178710906 | chr2:179575635;179575634;179575633 |
| N2A | 8153 | 24682;24683;24684 | chr2:178710908;178710907;178710906 | chr2:179575635;179575634;179575633 |
| 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 | rs1359908699  |
-0.167 | 1.0 | None | 0.887 | 0.572 | 0.830294410965 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/L | rs1359908699 |
-0.167 | 1.0 | None | 0.887 | 0.572 | 0.830294410965 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs1359908699 |
-0.167 | 1.0 | None | 0.887 | 0.572 | 0.830294410965 | gnomAD-4.0.0 | 6.5735E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| P/S | rs1446166655 |
-2.147 | 1.0 | None | 0.907 | 0.558 | 0.68224456972 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1446166655 |
-2.147 | 1.0 | None | 0.907 | 0.558 | 0.68224456972 | gnomAD-4.0.0 | 1.593E-06 | None | None | None | None | N | None | 0 | 2.28707E-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 | 0.5649 | likely_pathogenic | 0.6881 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/C | 0.9679 | likely_pathogenic | 0.9822 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/D | 0.9981 | likely_pathogenic | 0.9991 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/E | 0.9936 | likely_pathogenic | 0.9971 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/F | 0.9959 | likely_pathogenic | 0.9985 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/G | 0.9785 | likely_pathogenic | 0.9887 | pathogenic | -2.097 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/H | 0.9881 | likely_pathogenic | 0.9953 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/I | 0.8922 | likely_pathogenic | 0.9549 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/K | 0.9956 | likely_pathogenic | 0.9981 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/L | 0.7946 | likely_pathogenic | 0.8968 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/M | 0.9784 | likely_pathogenic | 0.9907 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/N | 0.9952 | likely_pathogenic | 0.998 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/Q | 0.9836 | likely_pathogenic | 0.993 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/R | 0.9808 | likely_pathogenic | 0.9912 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/S | 0.9195 | likely_pathogenic | 0.9599 | pathogenic | -1.816 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/T | 0.8818 | likely_pathogenic | 0.9461 | pathogenic | -1.627 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/V | 0.774 | likely_pathogenic | 0.8824 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9997 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/Y | 0.9969 | likely_pathogenic | 0.9989 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.888 | 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.