Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1320 | 4183;4184;4185 | chr2:178779234;178779233;178779232 | chr2:179643961;179643960;179643959 |
| N2AB | 1320 | 4183;4184;4185 | chr2:178779234;178779233;178779232 | chr2:179643961;179643960;179643959 |
| N2A | 1320 | 4183;4184;4185 | chr2:178779234;178779233;178779232 | chr2:179643961;179643960;179643959 |
| N2B | 1274 | 4045;4046;4047 | chr2:178779234;178779233;178779232 | chr2:179643961;179643960;179643959 |
| Novex-1 | 1274 | 4045;4046;4047 | chr2:178779234;178779233;178779232 | chr2:179643961;179643960;179643959 |
| Novex-2 | 1274 | 4045;4046;4047 | chr2:178779234;178779233;178779232 | chr2:179643961;179643960;179643959 |
| Novex-3 | 1320 | 4183;4184;4185 | chr2:178779234;178779233;178779232 | chr2:179643961;179643960;179643959 |
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/S | None | None | 1.0 | D | 0.818 | 0.784 | 0.62988413793 | gnomAD-4.0.0 | 2.05301E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79894E-06 | 0 | 1.65607E-05 |
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 | 0.8602 | likely_pathogenic | 0.8658 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.587404319 | None | None | N |
| P/C | 0.993 | likely_pathogenic | 0.9929 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.815 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.785 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/F | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/G | 0.986 | likely_pathogenic | 0.9862 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/H | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/I | 0.9934 | likely_pathogenic | 0.9941 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/K | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.9716 | likely_pathogenic | 0.9749 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.702900819 | None | None | N |
| P/M | 0.995 | likely_pathogenic | 0.9957 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| P/N | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/Q | 0.9944 | likely_pathogenic | 0.9947 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.811620602 | None | None | N |
| P/R | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.756430554 | None | None | N |
| P/S | 0.9797 | likely_pathogenic | 0.9793 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.718556292 | None | None | N |
| P/T | 0.9833 | likely_pathogenic | 0.9842 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.755447082 | None | None | N |
| P/V | 0.9801 | likely_pathogenic | 0.9824 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.798 | 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.