Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14479 | 43660;43661;43662 | chr2:178632571;178632570;178632569 | chr2:179497298;179497297;179497296 |
| N2AB | 12838 | 38737;38738;38739 | chr2:178632571;178632570;178632569 | chr2:179497298;179497297;179497296 |
| N2A | 11911 | 35956;35957;35958 | chr2:178632571;178632570;178632569 | chr2:179497298;179497297;179497296 |
| N2B | 5414 | 16465;16466;16467 | chr2:178632571;178632570;178632569 | chr2:179497298;179497297;179497296 |
| Novex-1 | 5539 | 16840;16841;16842 | chr2:178632571;178632570;178632569 | chr2:179497298;179497297;179497296 |
| Novex-2 | 5606 | 17041;17042;17043 | chr2:178632571;178632570;178632569 | chr2:179497298;179497297;179497296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | rs1184251114  |
-1.513 | 1.0 | D | 0.792 | 0.537 | 0.615873902259 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| F/I | rs1184251114 |
-1.513 | 1.0 | D | 0.792 | 0.537 | 0.615873902259 | 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 |
| F/I | rs1184251114 |
-1.513 | 1.0 | D | 0.792 | 0.537 | 0.615873902259 | gnomAD-4.0.0 | 4.339E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08661E-06 | 0 | 1.6019E-05 |
| F/Y | rs2059938240 |
None | 0.999 | D | 0.649 | 0.516 | 0.73816917926 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/Y | rs2059938240 |
None | 0.999 | D | 0.649 | 0.516 | 0.73816917926 | gnomAD-4.0.0 | 2.56366E-06 | None | None | None | None | N | None | 1.6921E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34059E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9561 | likely_pathogenic | 0.9446 | pathogenic | -2.931 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/C | 0.8502 | likely_pathogenic | 0.7904 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.436394374 | None | None | N |
| F/D | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -3.6 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/E | 0.998 | likely_pathogenic | 0.997 | pathogenic | -3.384 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/G | 0.988 | likely_pathogenic | 0.9841 | pathogenic | -3.325 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/H | 0.9921 | likely_pathogenic | 0.9895 | pathogenic | -2.444 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/I | 0.7201 | likely_pathogenic | 0.6282 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.533822698 | None | None | N |
| F/K | 0.998 | likely_pathogenic | 0.9971 | pathogenic | -2.315 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| F/L | 0.9437 | likely_pathogenic | 0.9249 | pathogenic | -1.603 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | D | 0.548831214 | None | None | N |
| F/M | 0.8688 | likely_pathogenic | 0.8231 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/N | 0.9954 | likely_pathogenic | 0.9937 | pathogenic | -2.96 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/Q | 0.9965 | likely_pathogenic | 0.9947 | pathogenic | -2.791 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/R | 0.9924 | likely_pathogenic | 0.9891 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/S | 0.987 | likely_pathogenic | 0.9831 | pathogenic | -3.276 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.65554039 | None | None | N |
| F/T | 0.9826 | likely_pathogenic | 0.9764 | pathogenic | -2.954 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/V | 0.6814 | likely_pathogenic | 0.6033 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.522554864 | None | None | N |
| F/W | 0.9353 | likely_pathogenic | 0.91 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| F/Y | 0.6621 | likely_pathogenic | 0.604 | pathogenic | -1.365 | Destabilizing | 0.999 | D | 0.649 | neutral | D | 0.574941046 | 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.